-
1
-
-
0034790129
-
National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000
-
National Institutes of Health Consensus Development Panel
-
National Institutes of Health Consensus Development Panel National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics 2001, 108:972-982.
-
(2001)
Pediatrics
, vol.108
, pp. 972-982
-
-
-
2
-
-
84941432771
-
Über ausscheidung von pheynylbrenztraubensäure in den harn als stoffwechselanomalie in verbindung mit imbezillität. (Urinary excretion of phenylpyruvic acid as a metabolic anomaly related to mental retardation.)
-
Fölling I.A. Über ausscheidung von pheynylbrenztraubensäure in den harn als stoffwechselanomalie in verbindung mit imbezillität. (Urinary excretion of phenylpyruvic acid as a metabolic anomaly related to mental retardation.). Hoppe Seylers Z. Physiol. Chem. 1934, 227:169-176.
-
(1934)
Hoppe Seylers Z. Physiol. Chem.
, vol.227
, pp. 169-176
-
-
Fölling, I.A.1
-
3
-
-
50449135748
-
Influence of phenylalanine intake on phenylketonuria
-
Bickel H., Gerrard J., Hickmans E.M. Influence of phenylalanine intake on phenylketonuria. Lancet 1953, 265:812-813.
-
(1953)
Lancet
, vol.265
, pp. 812-813
-
-
Bickel, H.1
Gerrard, J.2
Hickmans, E.M.3
-
4
-
-
84866179926
-
Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example
-
Camp K.M., Lloyd-Puryear M.A., Huntington K.L. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol. Genet. Metab. 2012, 107:3-9.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 3-9
-
-
Camp, K.M.1
Lloyd-Puryear, M.A.2
Huntington, K.L.3
-
5
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R., Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963, 32:338-343.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
6
-
-
0017743853
-
Intellectual assessment of 111 four-year-old children with phenylketonuria
-
Dobson J.C., Williamson M.L., Azen C., Koch R. Intellectual assessment of 111 four-year-old children with phenylketonuria. Pediatrics 1977, 60:822-827.
-
(1977)
Pediatrics
, vol.60
, pp. 822-827
-
-
Dobson, J.C.1
Williamson, M.L.2
Azen, C.3
Koch, R.4
-
8
-
-
84888306320
-
-
Health Resources and Services Administration, U.S. Health and Human Services D.A.C.o.H.D.i.N.a.
-
D.A.C.o.H.D.i.N.a. Children, Recommended Uniform Screening Panel 2013, Health Resources and Services Administration, U.S. Health and Human Services.
-
(2013)
Children, Recommended Uniform Screening Panel
-
-
-
9
-
-
0036744719
-
Phenylketonuria in adulthood: a collaborative study
-
Koch R., Burton B., Hoganson G., Peterson R., Rhead W., Rouse B., Scott R., Wolff J., Stern A.M., Guttler F., Nelson M., de la Cruz F., Coldwell J., Erbe R., Geraghty M.T., Shear C., Thomas J., Azen C. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 2002, 25:333-346.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 333-346
-
-
Koch, R.1
Burton, B.2
Hoganson, G.3
Peterson, R.4
Rhead, W.5
Rouse, B.6
Scott, R.7
Wolff, J.8
Stern, A.M.9
Guttler, F.10
Nelson, M.11
de la Cruz, F.12
Coldwell, J.13
Erbe, R.14
Geraghty, M.T.15
Shear, C.16
Thomas, J.17
Azen, C.18
-
10
-
-
0346124136
-
The Maternal Phenylketonuria International Study: 1984-2002
-
Koch R., Hanley W., Levy H., Matalon K., Matalon R., Rouse B., Trefz F., Guttler F., Azen C., Platt L., Waisbren S., Widaman K., Ning J., Friedman E.G., de la Cruz F. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 2003, 112:1523-1529.
-
(2003)
Pediatrics
, vol.112
, pp. 1523-1529
-
-
Koch, R.1
Hanley, W.2
Levy, H.3
Matalon, K.4
Matalon, R.5
Rouse, B.6
Trefz, F.7
Guttler, F.8
Azen, C.9
Platt, L.10
Waisbren, S.11
Widaman, K.12
Ning, J.13
Friedman, E.G.14
de la Cruz, F.15
-
11
-
-
84880811177
-
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
-
Camp K.M., Lloyd-Puryear M.A., Yao L., Groft S.C., Parisi M.A., Mulberg A., Gopal-Srivastava R., Cederbaum S., Enns G.M., Ershow A.G., Frazier D.M., Gohagan J., Harding C., Howell R.R., Regan K., Stacpoole P.W., Venditti C., Vockley J., Watson M., Coates P.M. Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism. Mol. Genet. Metab. 2013, 109:319-328.
-
(2013)
Mol. Genet. Metab.
, vol.109
, pp. 319-328
-
-
Camp, K.M.1
Lloyd-Puryear, M.A.2
Yao, L.3
Groft, S.C.4
Parisi, M.A.5
Mulberg, A.6
Gopal-Srivastava, R.7
Cederbaum, S.8
Enns, G.M.9
Ershow, A.G.10
Frazier, D.M.11
Gohagan, J.12
Harding, C.13
Howell, R.R.14
Regan, K.15
Stacpoole, P.W.16
Venditti, C.17
Vockley, J.18
Watson, M.19
Coates, P.M.20
more..
-
12
-
-
79959782071
-
Mild hyperphenylalaninemia: to treat or not to treat
-
van Spronsen F.J. Mild hyperphenylalaninemia: to treat or not to treat. J. Inherit. Metab. Dis. 2011, 34:651-656.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 651-656
-
-
van Spronsen, F.J.1
-
13
-
-
80052529803
-
Non-PKU mild hyperphenylalaninemia (MHP)-the dilemma
-
Hanley W.B. Non-PKU mild hyperphenylalaninemia (MHP)-the dilemma. Mol. Genet. Metab. 2011, 104:23-26.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 23-26
-
-
Hanley, W.B.1
-
14
-
-
84884349887
-
Adjuvant treatment for phenylketonuria (PKU)
-
Agency for Healthcare Research and Quality, Rockville MD
-
Lindegren M.L., Krishnaswami S., Fonnesbeck C., Reimschisel T., Fisher J., Jackson K., Shields T., Sathe N.A., McPheeters M.L. Adjuvant treatment for phenylketonuria (PKU). Comparative Effectiveness Reviews 2012, No. 56. Agency for Healthcare Research and Quality, Rockville MD.
-
(2012)
Comparative Effectiveness Reviews
, vol.56
-
-
Lindegren, M.L.1
Krishnaswami, S.2
Fonnesbeck, C.3
Reimschisel, T.4
Fisher, J.5
Jackson, K.6
Shields, T.7
Sathe, N.A.8
McPheeters, M.L.9
-
15
-
-
84923351874
-
A systematic review of BH4 (sapropterin) for the adjuvant treatment of phenylketonuria
-
Lindegren M.L., Krishnaswami S., Reimschisel T., Fonnesbeck C., Sathe N.A., McPheeters M.L. A systematic review of BH4 (sapropterin) for the adjuvant treatment of phenylketonuria. JIMD Rep. 2013, 8:109-119.
-
(2013)
JIMD Rep.
, vol.8
, pp. 109-119
-
-
Lindegren, M.L.1
Krishnaswami, S.2
Reimschisel, T.3
Fonnesbeck, C.4
Sathe, N.A.5
McPheeters, M.L.6
-
16
-
-
84884350879
-
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis
-
Fonnesbeck C.J., McPheeters M.L., Krishnaswami S., Lindegren M.L., Reimschisel T. Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis. J. Inherit. Metab. Dis. 2013, 36:757-766.
-
(2013)
J. Inherit. Metab. Dis.
, vol.36
, pp. 757-766
-
-
Fonnesbeck, C.J.1
McPheeters, M.L.2
Krishnaswami, S.3
Lindegren, M.L.4
Reimschisel, T.5
-
17
-
-
77949609822
-
AHRQ series paper 5: grading the strength of a body of evidence when comparing medical interventions-Agency for Healthcare Research and Quality and the effective health-care program
-
Owens D.K., Lohr K.N., Atkins D., Treadwell J.R., Reston J.T., Bass E.B., Chang S., Helfand M. AHRQ series paper 5: grading the strength of a body of evidence when comparing medical interventions-Agency for Healthcare Research and Quality and the effective health-care program. J. Clin. Epidemiol. 2010, 63:513-523.
-
(2010)
J. Clin. Epidemiol.
, vol.63
, pp. 513-523
-
-
Owens, D.K.1
Lohr, K.N.2
Atkins, D.3
Treadwell, J.R.4
Reston, J.T.5
Bass, E.B.6
Chang, S.7
Helfand, M.8
-
18
-
-
0033950629
-
Outcome at age 4years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study
-
Waisbren S.E., Hanley W., Levy H.L., Shifrin H., Allred E., Azen C., Chang P.N., Cipcic-Schmidt S., de la Cruz F., Hall R., Matalon R., Nanson J., Rouse B., Trefz F., Koch R. Outcome at age 4years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. JAMA 2000, 283:756-762.
-
(2000)
JAMA
, vol.283
, pp. 756-762
-
-
Waisbren, S.E.1
Hanley, W.2
Levy, H.L.3
Shifrin, H.4
Allred, E.5
Azen, C.6
Chang, P.N.7
Cipcic-Schmidt, S.8
de la Cruz, F.9
Hall, R.10
Matalon, R.11
Nanson, J.12
Rouse, B.13
Trefz, F.14
Koch, R.15
-
19
-
-
0348014927
-
Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study
-
Widaman K.F., Azen C. Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study. Pediatrics 2003, 112:1537-1543.
-
(2003)
Pediatrics
, vol.112
, pp. 1537-1543
-
-
Widaman, K.F.1
Azen, C.2
-
20
-
-
84893809324
-
Systematic review of large neutral amino acids for treatment of phenylketonuria
-
Lindegren M.L., Krishnaswami S., Reimschisel T., Fonnesbeck C., Sathe N., McPheeters M.L. Systematic review of large neutral amino acids for treatment of phenylketonuria. J. Pediatr. Biochem. 2013, 3:181-186.
-
(2013)
J. Pediatr. Biochem.
, vol.3
, pp. 181-186
-
-
Lindegren, M.L.1
Krishnaswami, S.2
Reimschisel, T.3
Fonnesbeck, C.4
Sathe, N.5
McPheeters, M.L.6
-
21
-
-
33947635001
-
Peak bone mass in patients with phenylketonuria
-
Modan-Moses D., Vered I., Schwartz G., Anikster Y., Abraham S., Segev R., Efrati O. Peak bone mass in patients with phenylketonuria. J. Inherit. Metab. Dis. 2007, 30:202-208.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 202-208
-
-
Modan-Moses, D.1
Vered, I.2
Schwartz, G.3
Anikster, Y.4
Abraham, S.5
Segev, R.6
Efrati, O.7
-
22
-
-
79952283908
-
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia
-
Porta F., Mussa A., Zanin A., Greggio N.A., Burlina A., Spada M. Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. J. Pediatr. Gastroenterol. Nutr. 2011, 52:345-350.
-
(2011)
J. Pediatr. Gastroenterol. Nutr.
, vol.52
, pp. 345-350
-
-
Porta, F.1
Mussa, A.2
Zanin, A.3
Greggio, N.A.4
Burlina, A.5
Spada, M.6
-
23
-
-
0033219317
-
The implication of phenylketonuria on oral health
-
Kilpatrick N.M., Awang H., Wilcken B., Christodoulou J. The implication of phenylketonuria on oral health. Pediatr. Dent. 1999, 21:433-437.
-
(1999)
Pediatr. Dent.
, vol.21
, pp. 433-437
-
-
Kilpatrick, N.M.1
Awang, H.2
Wilcken, B.3
Christodoulou, J.4
-
24
-
-
84858702108
-
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
-
de Groot M.J., Hoeksma M., van Rijn M., Slart R.H., van Spronsen F.J. Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients. Mol. Genet. Metab. 2012, 105:566-570.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 566-570
-
-
de Groot, M.J.1
Hoeksma, M.2
van Rijn, M.3
Slart, R.H.4
van Spronsen, F.J.5
-
25
-
-
77957237994
-
Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence
-
Enns G.M., Koch R., Brumm V., Blakely E., Suter R., Jurecki E. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol. Genet. Metab. 2010, 101:99-109.
-
(2010)
Mol. Genet. Metab.
, vol.101
, pp. 99-109
-
-
Enns, G.M.1
Koch, R.2
Brumm, V.3
Blakely, E.4
Suter, R.5
Jurecki, E.6
-
26
-
-
70350375845
-
Self-reported dietary intake of omega-3 fatty acids and association with bone and lower extremity function
-
Rousseau J.H., Kleppinger A., Kenny A.M. Self-reported dietary intake of omega-3 fatty acids and association with bone and lower extremity function. J. Am. Geriatr. Soc. 2009, 57:1781-1788.
-
(2009)
J. Am. Geriatr. Soc.
, vol.57
, pp. 1781-1788
-
-
Rousseau, J.H.1
Kleppinger, A.2
Kenny, A.M.3
-
27
-
-
84897928116
-
Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density
-
Lage S., Bueno M., Andrade F., Prieto J.A., Delgado C., Legarda M., Sanjurjo P., Aldamiz-Echevarria L.J. Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density. J. Inherit. Metab. Dis. 2010, 33(SUPPL. 3):S363-S371.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, Issue.SUPPL. 3
-
-
Lage, S.1
Bueno, M.2
Andrade, F.3
Prieto, J.A.4
Delgado, C.5
Legarda, M.6
Sanjurjo, P.7
Aldamiz-Echevarria, L.J.8
-
28
-
-
82755192933
-
Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development
-
van Spronsen F.J., Huijbregts S.C., Bosch A.M., Leuzzi V. Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development. Mol. Genet. Metab. 2011, 104:S45-S51. (SUPPL.).
-
(2011)
Mol. Genet. Metab.
, vol.104
, Issue.SUPPL.
-
-
van Spronsen, F.J.1
Huijbregts, S.C.2
Bosch, A.M.3
Leuzzi, V.4
-
29
-
-
1642452976
-
Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
-
Gassio R., Campistol J., Vilaseca M.A., Lambruschini N., Cambra F.J., Fuste E. Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?. Acta Paediatr. 2003, 92:1474-1478.
-
(2003)
Acta Paediatr.
, vol.92
, pp. 1474-1478
-
-
Gassio, R.1
Campistol, J.2
Vilaseca, M.A.3
Lambruschini, N.4
Cambra, F.J.5
Fuste, E.6
-
30
-
-
0025030122
-
Neurological deterioration in young adults with phenylketonuria
-
Thompson A.J., Smith I., Brenton D., Youl B.D., Rylance G., Davidson D.C., Kendall B., Lees A.J. Neurological deterioration in young adults with phenylketonuria. Lancet 1990, 336:602-605.
-
(1990)
Lancet
, vol.336
, pp. 602-605
-
-
Thompson, A.J.1
Smith, I.2
Brenton, D.3
Youl, B.D.4
Rylance, G.5
Davidson, D.C.6
Kendall, B.7
Lees, A.J.8
-
31
-
-
70449527470
-
Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria
-
Manara R., Burlina A.P., Citton V., Ermani M., Vespignani F., Carollo C., Burlina A.B. Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. Neuroradiology 2009, 51:803-812.
-
(2009)
Neuroradiology
, vol.51
, pp. 803-812
-
-
Manara, R.1
Burlina, A.P.2
Citton, V.3
Ermani, M.4
Vespignani, F.5
Carollo, C.6
Burlina, A.B.7
-
32
-
-
33947680171
-
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0Tesla MRI and magnetic resonance spectroscopy (1H MRS) study
-
Leuzzi V., Tosetti M., Montanaro D., Carducci C., Artiola C., Carducci C., Antonozzi I., Burroni M., Carnevale F., Chiarotti F., Popolizio T., Giannatempo G.M., D'Alesio V., Scarabino T. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0Tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J. Inherit. Metab. Dis. 2007, 30:209-216.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 209-216
-
-
Leuzzi, V.1
Tosetti, M.2
Montanaro, D.3
Carducci, C.4
Artiola, C.5
Carducci, C.6
Antonozzi, I.7
Burroni, M.8
Carnevale, F.9
Chiarotti, F.10
Popolizio, T.11
Giannatempo, G.M.12
D'Alesio, V.13
Scarabino, T.14
-
33
-
-
72249095815
-
White matter pathology in phenylketonuria
-
Anderson P.J., Leuzzi V. White matter pathology in phenylketonuria. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S3-S9.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Anderson, P.J.1
Leuzzi, V.2
-
34
-
-
72249106379
-
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses
-
de Groot M.J., Hoeksma M., Blau N., Reijngoud D.J., van Spronsen F.J. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S86-S89.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
de Groot, M.J.1
Hoeksma, M.2
Blau, N.3
Reijngoud, D.J.4
van Spronsen, F.J.5
-
35
-
-
34548416775
-
Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis
-
Waisbren S.E., Noel K., Fahrbach K., Cella C., Frame D., Dorenbaum A., Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol. Genet. Metab. 2007, 92:63-70.
-
(2007)
Mol. Genet. Metab.
, vol.92
, pp. 63-70
-
-
Waisbren, S.E.1
Noel, K.2
Fahrbach, K.3
Cella, C.4
Frame, D.5
Dorenbaum, A.6
Levy, H.7
-
36
-
-
59349089192
-
Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis
-
Albrecht J., Garbade S.F., Burgard P. Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci. Biobehav. Rev. 2009, 33:414-421.
-
(2009)
Neurosci. Biobehav. Rev.
, vol.33
, pp. 414-421
-
-
Albrecht, J.1
Garbade, S.F.2
Burgard, P.3
-
37
-
-
51649099933
-
Stability of blood phenylalanine levels and IQ in children with phenylketonuria
-
Anastasoaie V., Kurzius L., Forbes P., Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol. Genet. Metab. 2008, 95:17-20.
-
(2008)
Mol. Genet. Metab.
, vol.95
, pp. 17-20
-
-
Anastasoaie, V.1
Kurzius, L.2
Forbes, P.3
Waisbren, S.4
-
38
-
-
34250023212
-
Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU
-
Moyle J.J., Fox A.M., Arthur M., Bynevelt M., Burnett J.R. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol. Rev. 2007, 17:91-101.
-
(2007)
Neuropsychol. Rev.
, vol.17
, pp. 91-101
-
-
Moyle, J.J.1
Fox, A.M.2
Arthur, M.3
Bynevelt, M.4
Burnett, J.R.5
-
39
-
-
72249106864
-
Beyond executive function: non-executive cognitive abilities in individuals with PKU
-
Janzen D., Nguyen M. Beyond executive function: non-executive cognitive abilities in individuals with PKU. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S47-S51.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Janzen, D.1
Nguyen, M.2
-
40
-
-
72249115976
-
Executive function in early-treated phenylketonuria: profile and underlying mechanisms
-
Christ S.E., Huijbregts S.C., de Sonneville L.M., White D.A. Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S22-S32.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Christ, S.E.1
Huijbregts, S.C.2
de Sonneville, L.M.3
White, D.A.4
-
41
-
-
72249119031
-
Psychosocial aspects of PKU: hidden disabilities-a review
-
Gentile J.K., Ten Hoedt A.E., Bosch A.M. Psychosocial aspects of PKU: hidden disabilities-a review. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S64-S67.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Gentile, J.K.1
Ten Hoedt, A.E.2
Bosch, A.M.3
-
42
-
-
25644455249
-
School performance in early and continuously treated phenylketonuria
-
Gassio R., Fuste E., Lopez-Sala A., Artuch R., Vilaseca M.A., Campistol J. School performance in early and continuously treated phenylketonuria. Pediatr. Neurol. 2005, 33:267-271.
-
(2005)
Pediatr. Neurol.
, vol.33
, pp. 267-271
-
-
Gassio, R.1
Fuste, E.2
Lopez-Sala, A.3
Artuch, R.4
Vilaseca, M.A.5
Campistol, J.6
-
43
-
-
0026069139
-
Intellectual development in 12-year-old children treated for phenylketonuria
-
Azen C.G., Koch R., Friedman E.G., Berlow S., Coldwell J., Krause W., Matalon R., McCabe E., O'Flynn M., Peterson R., et al. Intellectual development in 12-year-old children treated for phenylketonuria. Am. J. Dis. Child. 1991, 145:35-39.
-
(1991)
Am. J. Dis. Child.
, vol.145
, pp. 35-39
-
-
Azen, C.G.1
Koch, R.2
Friedman, E.G.3
Berlow, S.4
Coldwell, J.5
Krause, W.6
Matalon, R.7
McCabe, E.8
O'Flynn, M.9
Peterson, R.10
-
44
-
-
0036106789
-
Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics
-
Feldmann R., Denecke J., Pietsch M., Grenzebach M., Weglage J. Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr. Res. 2002, 51:761-765.
-
(2002)
Pediatr. Res.
, vol.51
, pp. 761-765
-
-
Feldmann, R.1
Denecke, J.2
Pietsch, M.3
Grenzebach, M.4
Weglage, J.5
-
45
-
-
2942585422
-
Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria
-
Arnold G.L., Vladutiu C.J., Orlowski C.C., Blakely E.M., DeLuca J. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J. Inherit. Metab. Dis. 2004, 27:137-143.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 137-143
-
-
Arnold, G.L.1
Vladutiu, C.J.2
Orlowski, C.C.3
Blakely, E.M.4
DeLuca, J.5
-
46
-
-
72549113240
-
Psychiatric symptoms and disorders in phenylketonuria
-
Brumm V.L., Bilder D., Waisbren S.E. Psychiatric symptoms and disorders in phenylketonuria. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S59-S63.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Brumm, V.L.1
Bilder, D.2
Waisbren, S.E.3
-
47
-
-
1842328552
-
Psychiatric disorders in adult patients with early-treated phenylketonuria
-
Pietz J., Fatkenheuer B., Burgard P., Armbruster M., Esser G., Schmidt H. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics 1997, 99:345-350.
-
(1997)
Pediatrics
, vol.99
, pp. 345-350
-
-
Pietz, J.1
Fatkenheuer, B.2
Burgard, P.3
Armbruster, M.4
Esser, G.5
Schmidt, H.6
-
48
-
-
0028631183
-
Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria
-
Burgard P., Armbruster M., Schmidt E., Rupp A. Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria. Acta Paediatr. SUPPL. 1994, 407:108-110.
-
(1994)
Acta Paediatr. SUPPL.
, vol.407
, pp. 108-110
-
-
Burgard, P.1
Armbruster, M.2
Schmidt, E.3
Rupp, A.4
-
49
-
-
84871715267
-
A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics
-
Burton B.K., Leviton L., Vespa H., Coon H., Longo N., Lundy B.D., Johnson M., Angelino A., Hamosh A., Bilder D. A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Mol. Genet. Metab. 2013, 108:8-12.
-
(2013)
Mol. Genet. Metab.
, vol.108
, pp. 8-12
-
-
Burton, B.K.1
Leviton, L.2
Vespa, H.3
Coon, H.4
Longo, N.5
Lundy, B.D.6
Johnson, M.7
Angelino, A.8
Hamosh, A.9
Bilder, D.10
-
50
-
-
72249102566
-
Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic
-
Waisbren S., White D.A. Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic. Mol. Genet. Metab. 2010, 99(SUPPL. 1):S96-S99.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Waisbren, S.1
White, D.A.2
-
51
-
-
0028643633
-
PKU in adolescents: rationale and psychosocial factors in diet continuation
-
Levy H.L., Waisbren S.E. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr. SUPPL. 1994, 407:92-97.
-
(1994)
Acta Paediatr. SUPPL.
, vol.407
, pp. 92-97
-
-
Levy, H.L.1
Waisbren, S.E.2
-
52
-
-
0025801690
-
Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies
-
Waisbren S.E., Shiloh S., St James P., Levy H.L. Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies. Am. J. Public Health 1991, 81:299-304.
-
(1991)
Am. J. Public Health
, vol.81
, pp. 299-304
-
-
Waisbren, S.E.1
Shiloh, S.2
St James, P.3
Levy, H.L.4
-
53
-
-
4644352361
-
Adult phenylketonuria
-
Hanley W.B. Adult phenylketonuria. Am. J. Med. 2004, 117:590-595.
-
(2004)
Am. J. Med.
, vol.117
, pp. 590-595
-
-
Hanley, W.B.1
-
54
-
-
0031796244
-
Neurological aspects of adult phenylketonuria
-
Pietz J. Neurological aspects of adult phenylketonuria. Curr. Opin. Neurol. 1998, 11:679-688.
-
(1998)
Curr. Opin. Neurol.
, vol.11
, pp. 679-688
-
-
Pietz, J.1
-
55
-
-
0034828191
-
PKU adults and their return to diet: predicting diet continuation and maintenance
-
Finkelson L., Bailey I., Waisbren S.E. PKU adults and their return to diet: predicting diet continuation and maintenance. J. Inherit. Metab. Dis. 2001, 24:515-516.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 515-516
-
-
Finkelson, L.1
Bailey, I.2
Waisbren, S.E.3
-
56
-
-
0019156116
-
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies
-
Lenke R.R., Levy H.L. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 1980, 303:1202-1208.
-
(1980)
N. Engl. J. Med.
, vol.303
, pp. 1202-1208
-
-
Lenke, R.R.1
Levy, H.L.2
-
57
-
-
13244292426
-
Maternal phenylketonuria: report from the United Kingdom Registry 1978-97
-
Lee P.J., Ridout D., Walter J.H., Cockburn F. Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch. Dis. Child. 2005, 90:143-146.
-
(2005)
Arch. Dis. Child.
, vol.90
, pp. 143-146
-
-
Lee, P.J.1
Ridout, D.2
Walter, J.H.3
Cockburn, F.4
-
58
-
-
51749102899
-
Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine
-
Maillot F., Lilburn M., Baudin J., Morley D.W., Lee P.J. Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. Am. J. Clin. Nutr. 2008, 88:700-705.
-
(2008)
Am. J. Clin. Nutr.
, vol.88
, pp. 700-705
-
-
Maillot, F.1
Lilburn, M.2
Baudin, J.3
Morley, D.W.4
Lee, P.J.5
-
59
-
-
84856396663
-
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies
-
Prick B.W., Hop W.C., Duvekot J.J. Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am. J. Clin. Nutr. 2012, 95:374-382.
-
(2012)
Am. J. Clin. Nutr.
, vol.95
, pp. 374-382
-
-
Prick, B.W.1
Hop, W.C.2
Duvekot, J.J.3
-
60
-
-
0035082006
-
Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations
-
Acosta P.B., Matalon K., Castiglioni L., Rohr F.J., Wenz E., Austin V., Azen C. Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. Am. J. Clin. Nutr. 2001, 73:792-796.
-
(2001)
Am. J. Clin. Nutr.
, vol.73
, pp. 792-796
-
-
Acosta, P.B.1
Matalon, K.2
Castiglioni, L.3
Rohr, F.J.4
Wenz, E.5
Austin, V.6
Azen, C.7
-
61
-
-
0036678213
-
Nutrient intake and congenital heart defects in maternal phenylketonuria
-
Michals-Matalon K., Platt L.D., Acosta P.P., Azen C., Walla C.A. Nutrient intake and congenital heart defects in maternal phenylketonuria. Am. J. Obstet. Gynecol. 2002, 187:441-444.
-
(2002)
Am. J. Obstet. Gynecol.
, vol.187
, pp. 441-444
-
-
Michals-Matalon, K.1
Platt, L.D.2
Acosta, P.P.3
Azen, C.4
Walla, C.A.5
-
62
-
-
1542377456
-
Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6years: the importance of strict dietary control preconception and throughout pregnancy
-
Rouse B., Azen C. Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6years: the importance of strict dietary control preconception and throughout pregnancy. J. Pediatr. 2004, 144:235-239.
-
(2004)
J. Pediatr.
, vol.144
, pp. 235-239
-
-
Rouse, B.1
Azen, C.2
-
63
-
-
0033997846
-
The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study
-
Platt L.D., Koch R., Hanley W.B., Levy H.L., Matalon R., Rouse B., Trefz F., de la Cruz F., Guttler F., Azen C., Friedman E.G. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. Am. J. Obstet. Gynecol. 2000, 182:326-333.
-
(2000)
Am. J. Obstet. Gynecol.
, vol.182
, pp. 326-333
-
-
Platt, L.D.1
Koch, R.2
Hanley, W.B.3
Levy, H.L.4
Matalon, R.5
Rouse, B.6
Trefz, F.7
de la Cruz, F.8
Guttler, F.9
Azen, C.10
Friedman, E.G.11
-
64
-
-
84867890739
-
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation
-
Teissier R., Nowak E., Assoun M., Mention K., Cano A., Fouilhoux A., Feillet F., Ogier H., Oger E., de Parscau L. Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. J. Inherit. Metab. Dis. 2012, 35:993-999.
-
(2012)
J. Inherit. Metab. Dis.
, vol.35
, pp. 993-999
-
-
Teissier, R.1
Nowak, E.2
Assoun, M.3
Mention, K.4
Cano, A.5
Fouilhoux, A.6
Feillet, F.7
Ogier, H.8
Oger, E.9
de Parscau, L.10
-
65
-
-
0347384250
-
Cognitive and behavioral development in maternal phenylketonuria offspring
-
Waisbren S.E., Azen C. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics 2003, 112:1544-1547.
-
(2003)
Pediatrics
, vol.112
, pp. 1544-1547
-
-
Waisbren, S.E.1
Azen, C.2
-
66
-
-
2942592525
-
The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings
-
Rohr F., Munier A., Sullivan D., Bailey I., Gennaccaro M., Levy H., Brereton H., Gleason S., Goss B., Lesperance E., Moseley K., Singh R., Tonyes L., Vespa H., Waisbren S. The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings. J. Inherit. Metab. Dis. 2004, 27:145-155.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 145-155
-
-
Rohr, F.1
Munier, A.2
Sullivan, D.3
Bailey, I.4
Gennaccaro, M.5
Levy, H.6
Brereton, H.7
Gleason, S.8
Goss, B.9
Lesperance, E.10
Moseley, K.11
Singh, R.12
Tonyes, L.13
Vespa, H.14
Waisbren, S.15
-
67
-
-
0036514745
-
Barriers to successful dietary control among pregnant women with phenylketonuria
-
Brown A.S., Fernhoff P.M., Waisbren S.E., Frazier D.M., Singh R., Rohr F., Morris J.M., Kenneson A., MacDonald P., Gwinn M., Honein M., Rasmussen S.A. Barriers to successful dietary control among pregnant women with phenylketonuria. Genet. Med. 2002, 4:84-89.
-
(2002)
Genet. Med.
, vol.4
, pp. 84-89
-
-
Brown, A.S.1
Fernhoff, P.M.2
Waisbren, S.E.3
Frazier, D.M.4
Singh, R.5
Rohr, F.6
Morris, J.M.7
Kenneson, A.8
MacDonald, P.9
Gwinn, M.10
Honein, M.11
Rasmussen, S.A.12
-
68
-
-
74549225182
-
Perspectives on dietary adherence among women with inborn errors of metabolism
-
Kemper A.R., Brewer C.A., Singh R.H. Perspectives on dietary adherence among women with inborn errors of metabolism. J. Am. Diet. Assoc. 2010, 110:247-252.
-
(2010)
J. Am. Diet. Assoc.
, vol.110
, pp. 247-252
-
-
Kemper, A.R.1
Brewer, C.A.2
Singh, R.H.3
-
69
-
-
0346753979
-
Role of nutrition in pregnancy with phenylketonuria and birth defects
-
Matalon K.M., Acosta P.B., Azen C. Role of nutrition in pregnancy with phenylketonuria and birth defects. Pediatrics 2003, 112:1534-1536.
-
(2003)
Pediatrics
, vol.112
, pp. 1534-1536
-
-
Matalon, K.M.1
Acosta, P.B.2
Azen, C.3
-
71
-
-
84886641597
-
Plasma lipid concentrations in 42 treated phenylketonuric children
-
Galluzzo C.R., Ortisi M.T., Castelli L., Agostoni C., Longhi R. Plasma lipid concentrations in 42 treated phenylketonuric children. J. Inherit. Metab. Dis. 1985, 8(SUPPL. 2):129.
-
(1985)
J. Inherit. Metab. Dis.
, vol.8
, Issue.SUPPL. 2
, pp. 129
-
-
Galluzzo, C.R.1
Ortisi, M.T.2
Castelli, L.3
Agostoni, C.4
Longhi, R.5
-
72
-
-
0002059285
-
Nutrition findings and requirements in pregnant women with phenylketonuria
-
The Parthenon Publishing Group, New York, NY, L.D. Platt, R. Koch, F. de la Cruz (Eds.)
-
Acosta P.B., Michals-Matalon K., Austin V., Castiglioni L., Rohr F., Wenz L., Azen C. Nutrition findings and requirements in pregnant women with phenylketonuria. Genetic Disorders and Pregnancy Outcome 1997, 21-32. The Parthenon Publishing Group, New York, NY. L.D. Platt, R. Koch, F. de la Cruz (Eds.).
-
(1997)
Genetic Disorders and Pregnancy Outcome
, pp. 21-32
-
-
Acosta, P.B.1
Michals-Matalon, K.2
Austin, V.3
Castiglioni, L.4
Rohr, F.5
Wenz, L.6
Azen, C.7
-
73
-
-
48249134365
-
Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development
-
Molloy A.M., Kirke P.N., Brody L.C., Scott J.M., Mills J.L. Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development. Food Nutr. Bull. 2008, 29:S101-S111.
-
(2008)
Food Nutr. Bull.
, vol.29
-
-
Molloy, A.M.1
Kirke, P.N.2
Brody, L.C.3
Scott, J.M.4
Mills, J.L.5
-
74
-
-
84901625253
-
-
(discussion S112-105)
-
(discussion S112-105).
-
-
-
-
75
-
-
63649146562
-
Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids
-
van Calcar S.C., MacLeod E.L., Gleason S.T., Etzel M.R., Clayton M.K., Wolff J.A., Ney D.M. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am. J. Clin. Nutr. 2009, 89:1068-1077.
-
(2009)
Am. J. Clin. Nutr.
, vol.89
, pp. 1068-1077
-
-
van Calcar, S.C.1
MacLeod, E.L.2
Gleason, S.T.3
Etzel, M.R.4
Clayton, M.K.5
Wolff, J.A.6
Ney, D.M.7
-
76
-
-
33947613027
-
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine
-
Matalon R., Michals-Matalon K., Bhatia G., Burlina A.B., Burlina A.P., Braga C., Fiori L., Giovannini M., Grechanina E., Novikov P., Grady J., Tyring S.K., Guttler F. Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J. Inherit. Metab. Dis. 2007, 30:153-158.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 153-158
-
-
Matalon, R.1
Michals-Matalon, K.2
Bhatia, G.3
Burlina, A.B.4
Burlina, A.P.5
Braga, C.6
Fiori, L.7
Giovannini, M.8
Grechanina, E.9
Novikov, P.10
Grady, J.11
Tyring, S.K.12
Guttler, F.13
-
77
-
-
73449095429
-
ACOG committee opinion no. 449: maternal phenylketonuria
-
C.o.G.American College of Obstetricians and Gynecologists
-
C.o.G.American College of Obstetricians and Gynecologists ACOG committee opinion no. 449: maternal phenylketonuria. Obstet. Gynecol. 2009, 114:1432-1433.
-
(2009)
Obstet. Gynecol.
, vol.114
, pp. 1432-1433
-
-
-
78
-
-
0021800962
-
Lactation and phenylketonuria
-
Bradburn N.C., Wappner R.S., Lemons J.A., Meyer B.A., Roberts R.S. Lactation and phenylketonuria. Am. J. Perinatol. 1985, 2:138-141.
-
(1985)
Am. J. Perinatol.
, vol.2
, pp. 138-141
-
-
Bradburn, N.C.1
Wappner, R.S.2
Lemons, J.A.3
Meyer, B.A.4
Roberts, R.S.5
-
79
-
-
0030809780
-
Maternal PKU and breastfeeding: case report of identical twin mothers
-
Fox-Bacon C., McCamman S., Therou L., Moore W., Kipp D.E. Maternal PKU and breastfeeding: case report of identical twin mothers. Clin. Pediatr. (Phila) 1997, 36:539-542.
-
(1997)
Clin. Pediatr. (Phila)
, vol.36
, pp. 539-542
-
-
Fox-Bacon, C.1
McCamman, S.2
Therou, L.3
Moore, W.4
Kipp, D.E.5
-
80
-
-
0038632040
-
A different approach to breast-feeding of the infant with phenylketonuria
-
van Rijn M., Bekhof J., Dijkstra T., Smit P.G., Moddermam P., van Spronsen F.J. A different approach to breast-feeding of the infant with phenylketonuria. Eur. J. Pediatr. 2003, 162:323-326.
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 323-326
-
-
van Rijn, M.1
Bekhof, J.2
Dijkstra, T.3
Smit, P.G.4
Moddermam, P.5
van Spronsen, F.J.6
-
81
-
-
34447554431
-
Traditional postpartum practices and rituals: a qualitative systematic review
-
Dennis C.L., Fung K., Grigoriadis S., Robinson G.E., Romans S., Ross L. Traditional postpartum practices and rituals: a qualitative systematic review. Womens Health (Lond. Engl.) 2007, 3:487-502.
-
(2007)
Womens Health (Lond. Engl.)
, vol.3
, pp. 487-502
-
-
Dennis, C.L.1
Fung, K.2
Grigoriadis, S.3
Robinson, G.E.4
Romans, S.5
Ross, L.6
-
83
-
-
28844479023
-
Tetrahydrobiopterin and maternal PKU
-
Koch R., Moseley K., Guttler F. Tetrahydrobiopterin and maternal PKU. Mol. Genet. Metab. 2005, 86(SUPPL. 1):S139-S141.
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Koch, R.1
Moseley, K.2
Guttler, F.3
-
84
-
-
84998183219
-
Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies
-
Moselely K., Skrabal J., Yano S., Koch R. Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies. ICAN Infant Child Adolesc. Nutr. 2009, 1:262-266.
-
(2009)
ICAN Infant Child Adolesc. Nutr.
, vol.1
, pp. 262-266
-
-
Moselely, K.1
Skrabal, J.2
Yano, S.3
Koch, R.4
-
85
-
-
84901609566
-
PKU treatment with tetrahydrobiopterin (sapropterin) during pregnancy
-
Pridjian G., Cunningham A., Tafti S., Andersson H.C. PKU treatment with tetrahydrobiopterin (sapropterin) during pregnancy. The American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA 2008.
-
(2008)
The American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA
-
-
Pridjian, G.1
Cunningham, A.2
Tafti, S.3
Andersson, H.C.4
-
86
-
-
0013665463
-
Studies on metabolism and disposition of sapropterine hydrochloride (SUN-0588) l-erythro-tetrahydrobiopterin dichloride in rats
-
Hayashi T.A., Ogata A., Takehisha M., Komoridani K., Oonuma N. Studies on metabolism and disposition of sapropterine hydrochloride (SUN-0588) l-erythro-tetrahydrobiopterin dichloride in rats. Clin. Rep. 1992, 26:3471-3495.
-
(1992)
Clin. Rep.
, vol.26
, pp. 3471-3495
-
-
Hayashi, T.A.1
Ogata, A.2
Takehisha, M.3
Komoridani, K.4
Oonuma, N.5
-
87
-
-
79952425639
-
Tetrahydrobiopterin is present in high quantity in human milk and has a vasorelaxing effect on newborn rat mesenteric arteries
-
Weinmann A., Post M., Pan J., Rafi M., O'Connor D.L., Unger S., Pencharz P., Belik J. Tetrahydrobiopterin is present in high quantity in human milk and has a vasorelaxing effect on newborn rat mesenteric arteries. Pediatr. Res. 2011, 69:325-329.
-
(2011)
Pediatr. Res.
, vol.69
, pp. 325-329
-
-
Weinmann, A.1
Post, M.2
Pan, J.3
Rafi, M.4
O'Connor, D.L.5
Unger, S.6
Pencharz, P.7
Belik, J.8
-
88
-
-
0028650386
-
Treatment of phenylalanine hydroxylase deficiency
-
Smith I. Treatment of phenylalanine hydroxylase deficiency. Acta Paediatr. SUPPL. 1994, 407:60-65.
-
(1994)
Acta Paediatr. SUPPL.
, vol.407
, pp. 60-65
-
-
Smith, I.1
-
89
-
-
0027397393
-
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria
-
M.R.C.W.P.o.Phenylketonuria
-
M.R.C.W.P.o.Phenylketonuria Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria. BMJ 1993, 306:115-119.
-
(1993)
BMJ
, vol.306
, pp. 115-119
-
-
-
90
-
-
0029786951
-
Summary of findings from the United States Collaborative Study of children treated for phenylketonuria
-
Azen C., Koch R., Friedman E., Wenz E., Fishler K. Summary of findings from the United States Collaborative Study of children treated for phenylketonuria. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S29-S32.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Azen, C.1
Koch, R.2
Friedman, E.3
Wenz, E.4
Fishler, K.5
-
91
-
-
0018180640
-
Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria
-
Smith I., Lobascher M.E., Stevenson J.E., Wolff O.H., Schmidt H., Grubel-Kaiser S., Bickel H. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br. Med. J. 1978, 2:723-726.
-
(1978)
Br. Med. J.
, vol.2
, pp. 723-726
-
-
Smith, I.1
Lobascher, M.E.2
Stevenson, J.E.3
Wolff, O.H.4
Schmidt, H.5
Grubel-Kaiser, S.6
Bickel, H.7
-
92
-
-
0017717745
-
Termination of dietary treatment in phenylketonuria
-
Cabalska B., Duczynska N., Borzymowska J., Zorska K., Koslacz-Folga A., Bozkowa K. Termination of dietary treatment in phenylketonuria. Eur. J. Pediatr. 1977, 126:253-262.
-
(1977)
Eur. J. Pediatr.
, vol.126
, pp. 253-262
-
-
Cabalska, B.1
Duczynska, N.2
Borzymowska, J.3
Zorska, K.4
Koslacz-Folga, A.5
Bozkowa, K.6
-
93
-
-
0026087542
-
Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria
-
Smith I., Beasley M.G., Ades A.E. Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria. Arch. Dis. Child. 1991, 66:311-316.
-
(1991)
Arch. Dis. Child.
, vol.66
, pp. 311-316
-
-
Smith, I.1
Beasley, M.G.2
Ades, A.E.3
-
94
-
-
0021991742
-
Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction
-
Seashore M.R., Friedman E., Novelly R.A., Bapat V. Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction. Pediatrics 1985, 75:226-232.
-
(1985)
Pediatrics
, vol.75
, pp. 226-232
-
-
Seashore, M.R.1
Friedman, E.2
Novelly, R.A.3
Bapat, V.4
-
95
-
-
0021180767
-
Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age
-
Koch R., Azen C., Friedman E.G., Williamson M.L. Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age. J. Inherit. Metab. Dis. 1984, 7:86-90.
-
(1984)
J. Inherit. Metab. Dis.
, vol.7
, pp. 86-90
-
-
Koch, R.1
Azen, C.2
Friedman, E.G.3
Williamson, M.L.4
-
96
-
-
0017153752
-
Mental development of phenylketonuric children on or off diet after the age of six
-
Brown E.S., Warner R. Mental development of phenylketonuric children on or off diet after the age of six. Psychol. Med. 1976, 6:287-296.
-
(1976)
Psychol. Med.
, vol.6
, pp. 287-296
-
-
Brown, E.S.1
Warner, R.2
-
97
-
-
0022609047
-
Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria
-
Holtzman N.A., Kronmal R.A., van Doorninck W., Azen C., Koch R. Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N. Engl. J. Med. 1986, 314:593-598.
-
(1986)
N. Engl. J. Med.
, vol.314
, pp. 593-598
-
-
Holtzman, N.A.1
Kronmal, R.A.2
van Doorninck, W.3
Azen, C.4
Koch, R.5
-
98
-
-
0042133277
-
Cutaneous findings in a 51-year-old man with phenylketonuria
-
Belloso L.M., Lowitt M.H. Cutaneous findings in a 51-year-old man with phenylketonuria. J. Am. Acad. Dermatol. 2003, 49:S190-S192.
-
(2003)
J. Am. Acad. Dermatol.
, vol.49
-
-
Belloso, L.M.1
Lowitt, M.H.2
-
99
-
-
0020513455
-
Pseudoscleroderma and phenylketonuria
-
Guillet G.Y., Dore N., Hehunstre J.P., Maleville J., Battin J. Pseudoscleroderma and phenylketonuria. Int. J. Dermatol. 1983, 22:422-426.
-
(1983)
Int. J. Dermatol.
, vol.22
, pp. 422-426
-
-
Guillet, G.Y.1
Dore, N.2
Hehunstre, J.P.3
Maleville, J.4
Battin, J.5
-
100
-
-
0028907738
-
Phenylketonuria with skin induration and atrophy (morphea, Pasini-Pierini atroderma and subcutaneous atrophy)
-
Szczepanski A., Blaszczyk M., Jablonska S. Phenylketonuria with skin induration and atrophy (morphea, Pasini-Pierini atroderma and subcutaneous atrophy). Eur. J. Dermatol. 1995, 5:139-141.
-
(1995)
Eur. J. Dermatol.
, vol.5
, pp. 139-141
-
-
Szczepanski, A.1
Blaszczyk, M.2
Jablonska, S.3
-
101
-
-
0026581852
-
Scleroderma-like skin indurations in a child with phenylketonuria: a clinicopathologic correlation and review of the literature
-
Nova M.P., Kaufman M., Halperin A. Scleroderma-like skin indurations in a child with phenylketonuria: a clinicopathologic correlation and review of the literature. J. Am. Acad. Dermatol. 1992, 26:329-333.
-
(1992)
J. Am. Acad. Dermatol.
, vol.26
, pp. 329-333
-
-
Nova, M.P.1
Kaufman, M.2
Halperin, A.3
-
102
-
-
0030048431
-
Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet
-
MacDonald A., Rylance G., Hall S.K., Asplin D., Booth I.W. Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch. Dis. Child. 1996, 74:412-417.
-
(1996)
Arch. Dis. Child.
, vol.74
, pp. 412-417
-
-
MacDonald, A.1
Rylance, G.2
Hall, S.K.3
Asplin, D.4
Booth, I.W.5
-
103
-
-
0027430130
-
Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing
-
van Spronsen F.J., van Rijn M., van Dijk T., Smit G.P., Reijngoud D.J., Berger R., Heymans H.S. Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing. Pediatrics 1993, 92:570-573.
-
(1993)
Pediatrics
, vol.92
, pp. 570-573
-
-
van Spronsen, F.J.1
van Rijn, M.2
van Dijk, T.3
Smit, G.P.4
Reijngoud, D.J.5
Berger, R.6
Heymans, H.S.7
-
104
-
-
0034107456
-
"Hypotyrosinemia" in phenylketonuria
-
Hanley W.B., Lee A.W., Hanley A.J., Lehotay D.C., Austin V.J., Schoonheyt W.E., Platt B.A., Clarke J.T. "Hypotyrosinemia" in phenylketonuria. Mol. Genet. Metab. 2000, 69:286-294.
-
(2000)
Mol. Genet. Metab.
, vol.69
, pp. 286-294
-
-
Hanley, W.B.1
Lee, A.W.2
Hanley, A.J.3
Lehotay, D.C.4
Austin, V.J.5
Schoonheyt, W.E.6
Platt, B.A.7
Clarke, J.T.8
-
105
-
-
84897924606
-
Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey
-
Sharman R., Sullivan K.A., Young R.M., McGill J.J. Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey. J. Inherit. Metab. Dis. 2010, 33(SUPPL. 3):417-420.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, Issue.SUPPL. 3
, pp. 417-420
-
-
Sharman, R.1
Sullivan, K.A.2
Young, R.M.3
McGill, J.J.4
-
107
-
-
0032944733
-
Protein status of infants with phenylketonuria undergoing nutrition management
-
Acosta P.B., Yannicelli S., Marriage B., Steiner R., Gaffield B., Arnold G., Lewis V., Cho S., Berstein L., Parton P., Leslie N., Korson M. Protein status of infants with phenylketonuria undergoing nutrition management. J. Am. Coll. Nutr. 1999, 18:102-107.
-
(1999)
J. Am. Coll. Nutr.
, vol.18
, pp. 102-107
-
-
Acosta, P.B.1
Yannicelli, S.2
Marriage, B.3
Steiner, R.4
Gaffield, B.5
Arnold, G.6
Lewis, V.7
Cho, S.8
Berstein, L.9
Parton, P.10
Leslie, N.11
Korson, M.12
-
108
-
-
80052537844
-
Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients
-
Humphrey M., Nation J., Francis I., Boneh A. Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients. Mol. Genet. Metab. 2011, 104:89-92.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 89-92
-
-
Humphrey, M.1
Nation, J.2
Francis, I.3
Boneh, A.4
-
109
-
-
0022494918
-
A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria
-
Hilton M.A., Sharpe J.N., Hicks L.G., Andrews B.F. A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria. J. Pediatr. 1986, 109:601-604.
-
(1986)
J. Pediatr.
, vol.109
, pp. 601-604
-
-
Hilton, M.A.1
Sharpe, J.N.2
Hicks, L.G.3
Andrews, B.F.4
-
111
-
-
0035515977
-
Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria
-
Luciana M., Sullivan J., Nelson C.A. Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria. Child Dev. 2001, 72:1637-1652.
-
(2001)
Child Dev.
, vol.72
, pp. 1637-1652
-
-
Luciana, M.1
Sullivan, J.2
Nelson, C.A.3
-
112
-
-
77951045995
-
A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels
-
Sharman R., Sullivan K., Young R., McGill J. A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels. Dev. Neuropsychol. 2010, 35:57-65.
-
(2010)
Dev. Neuropsychol.
, vol.35
, pp. 57-65
-
-
Sharman, R.1
Sullivan, K.2
Young, R.3
McGill, J.4
-
113
-
-
0029040801
-
Physical growth in patients with phenylketonuria
-
Dhondt J.L., Largilliere C., Moreno L., Farriaux J.P. Physical growth in patients with phenylketonuria. J. Inherit. Metab. Dis. 1995, 18:135-137.
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 135-137
-
-
Dhondt, J.L.1
Largilliere, C.2
Moreno, L.3
Farriaux, J.P.4
-
114
-
-
0036694803
-
Protein insufficiency and linear growth restriction in phenylketonuria
-
Arnold G.L., Vladutiu C.J., Kirby R.S., Blakely E.M., Deluca J.M. Protein insufficiency and linear growth restriction in phenylketonuria. J. Pediatr. 2002, 141:243-246.
-
(2002)
J. Pediatr.
, vol.141
, pp. 243-246
-
-
Arnold, G.L.1
Vladutiu, C.J.2
Kirby, R.S.3
Blakely, E.M.4
Deluca, J.M.5
-
115
-
-
0029786263
-
Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements
-
Acosta P.B. Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S136-S139.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Acosta, P.B.1
-
116
-
-
5344249425
-
Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy
-
Acosta P.B., Yannicelli S., Singh R., Mofidi S., Steiner R., DeVincentis E., Jurecki E., Bernstein L., Gleason S., Chetty M., Rouse B. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J. Am. Diet. Assoc. 2003, 103:1167-1173.
-
(2003)
J. Am. Diet. Assoc.
, vol.103
, pp. 1167-1173
-
-
Acosta, P.B.1
Yannicelli, S.2
Singh, R.3
Mofidi, S.4
Steiner, R.5
DeVincentis, E.6
Jurecki, E.7
Bernstein, L.8
Gleason, S.9
Chetty, M.10
Rouse, B.11
-
117
-
-
35248884697
-
Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature
-
Huemer M., Huemer C., Moslinger D., Huter D., Stockler-Ipsiroglu S. Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. J. Inherit. Metab. Dis. 2007, 30:694-699.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 694-699
-
-
Huemer, M.1
Huemer, C.2
Moslinger, D.3
Huter, D.4
Stockler-Ipsiroglu, S.5
-
118
-
-
0021637146
-
Growth development and its relationship to intellectual functioning of children with phenylketonuria
-
Chang P.N., Weisberg S., Fisch R.O. Growth development and its relationship to intellectual functioning of children with phenylketonuria. J. Dev. Behav. Pediatr. 1984, 5:127-131.
-
(1984)
J. Dev. Behav. Pediatr.
, vol.5
, pp. 127-131
-
-
Chang, P.N.1
Weisberg, S.2
Fisch, R.O.3
-
119
-
-
82255174979
-
Physical development in patients with phenylketonuria on dietary treatment: a retrospective study
-
Belanger-Quintana A., Martinez-Pardo M. Physical development in patients with phenylketonuria on dietary treatment: a retrospective study. Mol. Genet. Metab. 2011, 104:480-484.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 480-484
-
-
Belanger-Quintana, A.1
Martinez-Pardo, M.2
-
120
-
-
84907849523
-
-
Centers for Disease Control and Prevention, Atlanta, GA, P.A.Division of Nutrition, and Obesity National Center for Chronic Disease Prevention and Health Promotion
-
P.A.Division of Nutrition, and Obesity, National Center for Chronic Disease Prevention and Health Promotion Adult Obesity Facts 2013, Centers for Disease Control and Prevention, Atlanta, GA.
-
(2013)
Adult Obesity Facts
-
-
-
121
-
-
10844265407
-
Body mass index rebound and overweight at 8years of age in hyperphenylalaninaemic children
-
Scaglioni S., Verduci E., Fiori L., Lammardo A.M., Rossi S., Radaelli G., Riva E., Giovannini M. Body mass index rebound and overweight at 8years of age in hyperphenylalaninaemic children. Acta Paediatr. 2004, 93:1596-1600.
-
(2004)
Acta Paediatr.
, vol.93
, pp. 1596-1600
-
-
Scaglioni, S.1
Verduci, E.2
Fiori, L.3
Lammardo, A.M.4
Rossi, S.5
Radaelli, G.6
Riva, E.7
Giovannini, M.8
-
122
-
-
84869889612
-
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome
-
Rocha J.C., van Spronsen F.J., Almeida M.F., Soares G., Quelhas D., Ramos E., Guimaraes J.T., Borges N. Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol. Genet. Metab. 2012, 107:659-663.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 659-663
-
-
Rocha, J.C.1
van Spronsen, F.J.2
Almeida, M.F.3
Soares, G.4
Quelhas, D.5
Ramos, E.6
Guimaraes, J.T.7
Borges, N.8
-
123
-
-
84897927846
-
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage
-
Albersen M., Bonthuis M., de Roo N.M., van den Hurk D.A., Carbasius Weber E., Hendriks M.M., de Sain-van der Velden M.G., de Koning T.J., Visser G. Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage. J. Inherit. Metab. Dis. 2010, 33(SUPPL. 3):283-288.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, Issue.SUPPL. 3
, pp. 283-288
-
-
Albersen, M.1
Bonthuis, M.2
de Roo, N.M.3
van den Hurk, D.A.4
Carbasius Weber, E.5
Hendriks, M.M.6
de Sain-van der Velden, M.G.7
de Koning, T.J.8
Visser, G.9
-
124
-
-
0026182938
-
Physical growth of children treated for phenylketonuria
-
McBurnie M.A., Kronmal R.A., Schuett V.E., Koch R., Azeng C.G. Physical growth of children treated for phenylketonuria. Ann. Hum. Biol. 1991, 18:357-368.
-
(1991)
Ann. Hum. Biol.
, vol.18
, pp. 357-368
-
-
McBurnie, M.A.1
Kronmal, R.A.2
Schuett, V.E.3
Koch, R.4
Azeng, C.G.5
-
125
-
-
84879550779
-
Body mass index in adult patients with diet-treated phenylketonuria
-
Robertson L.V., McStravick N., Ripley S., Weetch E., Donald S., Adam S., Micciche A., Boocock S., MacDonald A. Body mass index in adult patients with diet-treated phenylketonuria. J. Hum. Nutr. Diet. 2013, 26(SUPPL. 1):1-6.
-
(2013)
J. Hum. Nutr. Diet.
, vol.26
, Issue.SUPPL. 1
, pp. 1-6
-
-
Robertson, L.V.1
McStravick, N.2
Ripley, S.3
Weetch, E.4
Donald, S.5
Adam, S.6
Micciche, A.7
Boocock, S.8
MacDonald, A.9
-
126
-
-
0038389589
-
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria
-
Dobbelaere D., Michaud L., Debrabander A., Vanderbecken S., Gottrand F., Turck D., Farriaux J.P. Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J. Inherit. Metab. Dis. 2003, 26:1-11.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 1-11
-
-
Dobbelaere, D.1
Michaud, L.2
Debrabander, A.3
Vanderbecken, S.4
Gottrand, F.5
Turck, D.6
Farriaux, J.P.7
-
127
-
-
77749279651
-
Reference curves for triceps and subscapular skinfold thicknesses in US children and adolescents
-
Addo O.Y., Himes J.H. Reference curves for triceps and subscapular skinfold thicknesses in US children and adolescents. Am. J. Clin. Nutr. 2010, 91:635-642.
-
(2010)
Am. J. Clin. Nutr.
, vol.91
, pp. 635-642
-
-
Addo, O.Y.1
Himes, J.H.2
-
128
-
-
0029828441
-
Recommendations for protein and energy intakes by patients with phenylketonuria
-
Acosta P.B. Recommendations for protein and energy intakes by patients with phenylketonuria. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S121-S124.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Acosta, P.B.1
-
129
-
-
77649286565
-
The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients
-
Rocha J.C., Almeida M.F., Carmona C., Cardoso M.L., Borges N., Soares I., Salcedo G., Lima M.R., Azevedo I., van Spronsen F.J. The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients. Ann. Nutr. Metab. 2010, 56:207-211.
-
(2010)
Ann. Nutr. Metab.
, vol.56
, pp. 207-211
-
-
Rocha, J.C.1
Almeida, M.F.2
Carmona, C.3
Cardoso, M.L.4
Borges, N.5
Soares, I.6
Salcedo, G.7
Lima, M.R.8
Azevedo, I.9
van Spronsen, F.J.10
-
130
-
-
33745790867
-
Protein substitute dosage in PKU: how much do young patients need?
-
MacDonald A., Chakrapani A., Hendriksz C., Daly A., Davies P., Asplin D., Hall K., Booth I.W. Protein substitute dosage in PKU: how much do young patients need?. Arch. Dis. Child. 2006, 91:588-593.
-
(2006)
Arch. Dis. Child.
, vol.91
, pp. 588-593
-
-
MacDonald, A.1
Chakrapani, A.2
Hendriksz, C.3
Daly, A.4
Davies, P.5
Asplin, D.6
Hall, K.7
Booth, I.W.8
-
131
-
-
0031713642
-
Nutrient intake and growth of infants with phenylketonuria undergoing therapy
-
Acosta P.B., Yannicelli S., Marriage B., Mantia C., Gaffield B., Porterfield M., Hunt M., McMaster N., Bernstein L., Parton P., Kuehn M., Lewis V. Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J. Pediatr. Gastroenterol. Nutr. 1998, 27:287-291.
-
(1998)
J. Pediatr. Gastroenterol. Nutr.
, vol.27
, pp. 287-291
-
-
Acosta, P.B.1
Yannicelli, S.2
Marriage, B.3
Mantia, C.4
Gaffield, B.5
Porterfield, M.6
Hunt, M.7
McMaster, N.8
Bernstein, L.9
Parton, P.10
Kuehn, M.11
Lewis, V.12
-
132
-
-
1942540768
-
Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors
-
Acosta P.B., Yannicelli S., Singh R.H., Elsas L.J., Mofidi S., Steiner R.D. Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet. Med. 2004, 6:96-101.
-
(2004)
Genet. Med.
, vol.6
, pp. 96-101
-
-
Acosta, P.B.1
Yannicelli, S.2
Singh, R.H.3
Elsas, L.J.4
Mofidi, S.5
Steiner, R.D.6
-
133
-
-
0035076794
-
Iron and protein sufficiency and red cell indices in phenylketonuria
-
Arnold G.L., Kirby R., Preston C., Blakely E. Iron and protein sufficiency and red cell indices in phenylketonuria. J. Am. Coll. Nutr. 2001, 20:65-70.
-
(2001)
J. Am. Coll. Nutr.
, vol.20
, pp. 65-70
-
-
Arnold, G.L.1
Kirby, R.2
Preston, C.3
Blakely, E.4
-
134
-
-
0029832681
-
Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria
-
Lombeck I., Jochum F., Terwolbeck K. Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S140-S144.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Lombeck, I.1
Jochum, F.2
Terwolbeck, K.3
-
135
-
-
41349089299
-
Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil
-
Barretto J.R., Silva L.R., Leite M.E., Boa-Sorte N., Pimentel H., Purificacao A.C., Carvalho G., Fontes M.I., Amorim T. Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil. Nutr. Res. 2008, 28:208-211.
-
(2008)
Nutr. Res.
, vol.28
, pp. 208-211
-
-
Barretto, J.R.1
Silva, L.R.2
Leite, M.E.3
Boa-Sorte, N.4
Pimentel, H.5
Purificacao, A.C.6
Carvalho, G.7
Fontes, M.I.8
Amorim, T.9
-
137
-
-
0028154021
-
Decreased bone mineral density in children with phenylketonuria
-
Allen J.R., Humphries I.R., Waters D.L., Roberts D.C., Lipson A.H., Howman-Giles R.G., Gaskin K.J. Decreased bone mineral density in children with phenylketonuria. Am. J. Clin. Nutr. 1994, 59:419-422.
-
(1994)
Am. J. Clin. Nutr.
, vol.59
, pp. 419-422
-
-
Allen, J.R.1
Humphries, I.R.2
Waters, D.L.3
Roberts, D.C.4
Lipson, A.H.5
Howman-Giles, R.G.6
Gaskin, K.J.7
-
138
-
-
0029838146
-
Decreased bone mineralization in children with phenylketonuria under treatment
-
Hillman L., Schlotzhauer C., Lee D., Grasela J., Witter S., Allen S., Hillman R. Decreased bone mineralization in children with phenylketonuria under treatment. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S148-S152.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Hillman, L.1
Schlotzhauer, C.2
Lee, D.3
Grasela, J.4
Witter, S.5
Allen, S.6
Hillman, R.7
-
139
-
-
0026764376
-
Bone mineral status in children with phenylketonuria-relationship to nutritional intake and phenylalanine control
-
McMurry M.P., Chan G.M., Leonard C.O., Ernst S.L. Bone mineral status in children with phenylketonuria-relationship to nutritional intake and phenylalanine control. Am. J. Clin. Nutr. 1992, 55:997-1004.
-
(1992)
Am. J. Clin. Nutr.
, vol.55
, pp. 997-1004
-
-
McMurry, M.P.1
Chan, G.M.2
Leonard, C.O.3
Ernst, S.L.4
-
140
-
-
0034779346
-
Intake and blood levels of fatty acids in treated patients with phenylketonuria
-
Acosta P.B., Yannicelli S., Singh R., Eisas L.J., Kennedy M.J., Bernstein L., Rohr F., Trahms C., Koch R., Breck J. Intake and blood levels of fatty acids in treated patients with phenylketonuria. J. Pediatr. Gastroenterol. Nutr. 2001, 33:253-259.
-
(2001)
J. Pediatr. Gastroenterol. Nutr.
, vol.33
, pp. 253-259
-
-
Acosta, P.B.1
Yannicelli, S.2
Singh, R.3
Eisas, L.J.4
Kennedy, M.J.5
Bernstein, L.6
Rohr, F.7
Trahms, C.8
Koch, R.9
Breck, J.10
-
141
-
-
33645729181
-
A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria
-
Agostoni C., Harvie A., McCulloch D.L., Demellweek C., Cockburn F., Giovannini M., Murray G., Harkness R.A., Riva E. A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. Dev. Med. Child Neurol. 2006, 48:207-212.
-
(2006)
Dev. Med. Child Neurol.
, vol.48
, pp. 207-212
-
-
Agostoni, C.1
Harvie, A.2
McCulloch, D.L.3
Demellweek, C.4
Cockburn, F.5
Giovannini, M.6
Murray, G.7
Harkness, R.A.8
Riva, E.9
-
142
-
-
0029786262
-
Fatty acid metabolism in phenylketonuria
-
Giovannini M., Agostoni C., Biasucci G., Rottoli A., Luotti D., Trojan S., Riva E. Fatty acid metabolism in phenylketonuria. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S132-S135.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Giovannini, M.1
Agostoni, C.2
Biasucci, G.3
Rottoli, A.4
Luotti, D.5
Trojan, S.6
Riva, E.7
-
143
-
-
33745726801
-
Randomised controlled trial of essential fatty acid supplementation in phenylketonuria
-
Cleary M.A., Feillet F., White F.J., Vidailhet M., Macdonald A., Grimsley A., Maurin N., de Baulny H.O., Rutherford P.J. Randomised controlled trial of essential fatty acid supplementation in phenylketonuria. Eur. J. Clin. Nutr. 2006, 60:915-920.
-
(2006)
Eur. J. Clin. Nutr.
, vol.60
, pp. 915-920
-
-
Cleary, M.A.1
Feillet, F.2
White, F.J.3
Vidailhet, M.4
Macdonald, A.5
Grimsley, A.6
Maurin, N.7
de Baulny, H.O.8
Rutherford, P.J.9
-
144
-
-
34247152091
-
Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria
-
Beblo S., Reinhardt H., Demmelmair H., Muntau A.C., Koletzko B. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J. Pediatr. 2007, 150:479-484.
-
(2007)
J. Pediatr.
, vol.150
, pp. 479-484
-
-
Beblo, S.1
Reinhardt, H.2
Demmelmair, H.3
Muntau, A.C.4
Koletzko, B.5
-
145
-
-
25844509266
-
Fat intakes of children with PKU on low phenylalanine diets
-
Rose H.J., White F., Macdonald A., Rutherford P.J., Favre E. Fat intakes of children with PKU on low phenylalanine diets. J. Hum. Nutr. Diet. 2005, 18:395-400.
-
(2005)
J. Hum. Nutr. Diet.
, vol.18
, pp. 395-400
-
-
Rose, H.J.1
White, F.2
Macdonald, A.3
Rutherford, P.J.4
Favre, E.5
-
146
-
-
80053966358
-
Vitamins and cognition: what is the evidence?
-
Kennedy D.O., Haskell C.F. Vitamins and cognition: what is the evidence?. Drugs 2011, 71:1957-1971.
-
(2011)
Drugs
, vol.71
, pp. 1957-1971
-
-
Kennedy, D.O.1
Haskell, C.F.2
-
147
-
-
47249136984
-
Cognitive functions and the antioxidant system in phenylketonuric patients
-
Gassio R., Artuch R., Vilaseca M.A., Fuste E., Colome R., Campistol J. Cognitive functions and the antioxidant system in phenylketonuric patients. Neuropsychology 2008, 22:426-431.
-
(2008)
Neuropsychology
, vol.22
, pp. 426-431
-
-
Gassio, R.1
Artuch, R.2
Vilaseca, M.A.3
Fuste, E.4
Colome, R.5
Campistol, J.6
-
148
-
-
82755160667
-
Specific prebiotics in a formula for infants with phenylketonuria
-
MacDonald A., Cochrane B., Wopereis H., Loveridge N. Specific prebiotics in a formula for infants with phenylketonuria. Mol. Genet. Metab. 2011, 104:S55-S59. (SUPPL.).
-
(2011)
Mol. Genet. Metab.
, vol.104
, Issue.SUPPL.
-
-
MacDonald, A.1
Cochrane, B.2
Wopereis, H.3
Loveridge, N.4
-
149
-
-
0029898870
-
Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the day
-
van Spronsen F.J., van Dijk T., Smit G.P., van Rijn M., Reijngoud D.J., Berger R., Heymans H.S. Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the day. Pediatrics 1996, 97:839-844.
-
(1996)
Pediatrics
, vol.97
, pp. 839-844
-
-
van Spronsen, F.J.1
van Dijk, T.2
Smit, G.P.3
van Rijn, M.4
Reijngoud, D.J.5
Berger, R.6
Heymans, H.S.7
-
150
-
-
0029786261
-
Recommendations for protein and amino acid intake in phenylketonuric patients
-
Cockburn F., Clark B.J. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S125-S129.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Cockburn, F.1
Clark, B.J.2
-
151
-
-
70350620454
-
Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes
-
MacLeod E.L., Gleason S.T., van Calcar S.C., Ney D.M. Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. Mol. Genet. Metab. 2009, 98:331-337.
-
(2009)
Mol. Genet. Metab.
, vol.98
, pp. 331-337
-
-
MacLeod, E.L.1
Gleason, S.T.2
van Calcar, S.C.3
Ney, D.M.4
-
152
-
-
36148953590
-
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment
-
Levy H., Burton B., Cederbaum S., Scriver C. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol. Genet. Metab. 2007, 92:287-291.
-
(2007)
Mol. Genet. Metab.
, vol.92
, pp. 287-291
-
-
Levy, H.1
Burton, B.2
Cederbaum, S.3
Scriver, C.4
-
153
-
-
61849144356
-
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria
-
Blau N., Belanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F.K., van Spronsen F.J. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol. Genet. Metab. 2009, 96:158-163.
-
(2009)
Mol. Genet. Metab.
, vol.96
, pp. 158-163
-
-
Blau, N.1
Belanger-Quintana, A.2
Demirkol, M.3
Feillet, F.4
Giovannini, M.5
MacDonald, A.6
Trefz, F.K.7
van Spronsen, F.J.8
-
154
-
-
59749083239
-
Effect of BH(4) supplementation on phenylalanine tolerance
-
Burlina A., Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. J. Inherit. Metab. Dis. 2009, 32:40-45.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 40-45
-
-
Burlina, A.1
Blau, N.2
-
155
-
-
33947709950
-
Phenylketonuria: dietary and therapeutic challenges
-
Giovannini M., Verduci E., Salvatici E., Fiori L., Riva E. Phenylketonuria: dietary and therapeutic challenges. J. Inherit. Metab. Dis. 2007, 30:145-152.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 145-152
-
-
Giovannini, M.1
Verduci, E.2
Salvatici, E.3
Fiori, L.4
Riva, E.5
-
156
-
-
35248882919
-
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
-
Burton B.K., Grange D.K., Milanowski A., Vockley G., Feillet F., Crombez E.A., Abadie V., Harding C.O., Cederbaum S., Dobbelaere D., Smith A., Dorenbaum A. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J. Inherit. Metab. Dis. 2007, 30:700-707.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 700-707
-
-
Burton, B.K.1
Grange, D.K.2
Milanowski, A.3
Vockley, G.4
Feillet, F.5
Crombez, E.A.6
Abadie, V.7
Harding, C.O.8
Cederbaum, S.9
Dobbelaere, D.10
Smith, A.11
Dorenbaum, A.12
-
157
-
-
34547697475
-
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
-
Levy H.L., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F.K., Whitley C.B., Feillet F., Feigenbaum A.S., Bebchuk J.D., Christ-Schmidt H., Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007, 370:504-510.
-
(2007)
Lancet
, vol.370
, pp. 504-510
-
-
Levy, H.L.1
Milanowski, A.2
Chakrapani, A.3
Cleary, M.4
Lee, P.5
Trefz, F.K.6
Whitley, C.B.7
Feillet, F.8
Feigenbaum, A.S.9
Bebchuk, J.D.10
Christ-Schmidt, H.11
Dorenbaum, A.12
-
158
-
-
28844448239
-
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin
-
Belanger-Quintana A., Garcia M.J., Castro M., Desviat L.R., Perez B., Mejia B., Ugarte M., Martinez-Pardo M. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol. Genet. Metab. 2005, 86:S61-S66.
-
(2005)
Mol. Genet. Metab.
, vol.86
-
-
Belanger-Quintana, A.1
Garcia, M.J.2
Castro, M.3
Desviat, L.R.4
Perez, B.5
Mejia, B.6
Ugarte, M.7
Martinez-Pardo, M.8
-
159
-
-
34548501968
-
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
-
Gramer G., Burgard P., Garbade S.F., Lindner M. Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. J. Inherit. Metab. Dis. 2007, 30:556-562.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 556-562
-
-
Gramer, G.1
Burgard, P.2
Garbade, S.F.3
Lindner, M.4
-
161
-
-
33747383079
-
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria
-
Boneh A., Francis D.E., Humphrey M., Upton H.J., Peters H.L. Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria. J. Paediatr. Child Health 2006, 42:496-498.
-
(2006)
J. Paediatr. Child Health
, vol.42
, pp. 496-498
-
-
Boneh, A.1
Francis, D.E.2
Humphrey, M.3
Upton, H.J.4
Peters, H.L.5
-
162
-
-
28844441226
-
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
-
Lambruschini N., Perez-Duenas B., Vilaseca M.A., Mas A., Artuch R., Gassio R., Gomez L., Gutierrez A., Campistol J. Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol. Genet. Metab. 2005, 86(SUPPL. 1):S54-S60.
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Lambruschini, N.1
Perez-Duenas, B.2
Vilaseca, M.A.3
Mas, A.4
Artuch, R.5
Gassio, R.6
Gomez, L.7
Gutierrez, A.8
Campistol, J.9
-
163
-
-
79960843070
-
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study
-
Burton B.K., Nowacka M., Hennermann J.B., Lipson M., Grange D.K., Chakrapani A., Trefz F., Dorenbaum A., Imperiale M., Kim S.S., Fernhoff P.M. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol. Genet. Metab. 2011, 103:315-322.
-
(2011)
Mol. Genet. Metab.
, vol.103
, pp. 315-322
-
-
Burton, B.K.1
Nowacka, M.2
Hennermann, J.B.3
Lipson, M.4
Grange, D.K.5
Chakrapani, A.6
Trefz, F.7
Dorenbaum, A.8
Imperiale, M.9
Kim, S.S.10
Fernhoff, P.M.11
-
164
-
-
82255192495
-
Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria
-
Singh R.H., Quirk M.E. Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol. Genet. Metab. 2011, 104:485-491.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 485-491
-
-
Singh, R.H.1
Quirk, M.E.2
-
165
-
-
67650230650
-
Recommendations for personalized dietary adjustments based on patient response to tetrahydrobiopterin (BH4) in phenylketonuria
-
Singh R.H., Jurecki E., Rohr F. Recommendations for personalized dietary adjustments based on patient response to tetrahydrobiopterin (BH4) in phenylketonuria. Top. Clin. Nutr. 2008, 23:149-157.
-
(2008)
Top. Clin. Nutr.
, vol.23
, pp. 149-157
-
-
Singh, R.H.1
Jurecki, E.2
Rohr, F.3
-
166
-
-
63449107693
-
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
-
Trefz F.K., Burton B.K., Longo N., Casanova M.M., Gruskin D.J., Dorenbaum A., Kakkis E.D., Crombez E.A., Grange D.K., Harmatz P., Lipson M.H., Milanowski A., Randolph L.M., Vockley J., Whitley C.B., Wolff J.A., Bebchuk J., Christ-Schmidt H., Hennermann J.B. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J. Pediatr. 2009, 154:700-707.
-
(2009)
J. Pediatr.
, vol.154
, pp. 700-707
-
-
Trefz, F.K.1
Burton, B.K.2
Longo, N.3
Casanova, M.M.4
Gruskin, D.J.5
Dorenbaum, A.6
Kakkis, E.D.7
Crombez, E.A.8
Grange, D.K.9
Harmatz, P.10
Lipson, M.H.11
Milanowski, A.12
Randolph, L.M.13
Vockley, J.14
Whitley, C.B.15
Wolff, J.A.16
Bebchuk, J.17
Christ-Schmidt, H.18
Hennermann, J.B.19
-
167
-
-
79960133302
-
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?
-
Macdonald A., Ahring K., Dokoupil K., Gokmen-Ozel H., Lammardo A.M., Motzfeldt K., Robert M., Cesar Rocha J., van Rijn M., Belanger-Quintana A. Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?. Br. J. Nutr. 2011, 1-8.
-
(2011)
Br. J. Nutr.
, pp. 1-8
-
-
Macdonald, A.1
Ahring, K.2
Dokoupil, K.3
Gokmen-Ozel, H.4
Lammardo, A.M.5
Motzfeldt, K.6
Robert, M.7
Cesar Rocha, J.8
van Rijn, M.9
Belanger-Quintana, A.10
-
168
-
-
28844484633
-
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
-
Hennermann J.B., Buhrer C., Blau N., Vetter B., Monch E. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol. Genet. Metab. 2005, 86(SUPPL. 1):S86-S90.
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Hennermann, J.B.1
Buhrer, C.2
Blau, N.3
Vetter, B.4
Monch, E.5
-
169
-
-
84862535401
-
Recommendations for the use of sapropterin in phenylketonuria
-
Cunningham A., Bausell H., Brown M., Chapman M., DeFouw K., Ernst S., McClure J., McCune H., O'Steen D., Pender A., Skrabal J., Wessel A., Jurecki E., Shediac R., Prasad S., Gillis J., Cederbaum S. Recommendations for the use of sapropterin in phenylketonuria. Mol. Genet. Metab. 2012, 106:269-276.
-
(2012)
Mol. Genet. Metab.
, vol.106
, pp. 269-276
-
-
Cunningham, A.1
Bausell, H.2
Brown, M.3
Chapman, M.4
DeFouw, K.5
Ernst, S.6
McClure, J.7
McCune, H.8
O'Steen, D.9
Pender, A.10
Skrabal, J.11
Wessel, A.12
Jurecki, E.13
Shediac, R.14
Prasad, S.15
Gillis, J.16
Cederbaum, S.17
-
170
-
-
77955887072
-
Phenylketonuria: a 21st century perspective
-
van Spronsen F.J. Phenylketonuria: a 21st century perspective. Nat. Rev. Endocrinol. 2010, 6:509-514.
-
(2010)
Nat. Rev. Endocrinol.
, vol.6
, pp. 509-514
-
-
van Spronsen, F.J.1
-
171
-
-
0017131044
-
Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria
-
Andersen A.E., Avins L. Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria. Arch. Neurol. 1976, 33:684-686.
-
(1976)
Arch. Neurol.
, vol.33
, pp. 684-686
-
-
Andersen, A.E.1
Avins, L.2
-
172
-
-
0033560647
-
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
-
Pietz J., Kreis R., Rupp A., Mayatepek E., Rating D., Boesch C., Bremer H.J. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J. Clin. Invest. 1999, 103:1169-1178.
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 1169-1178
-
-
Pietz, J.1
Kreis, R.2
Rupp, A.3
Mayatepek, E.4
Rating, D.5
Boesch, C.6
Bremer, H.J.7
-
173
-
-
0031898769
-
Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids
-
Pardridge W.M. Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids. Neurochem. Res. 1998, 23:635-644.
-
(1998)
Neurochem. Res.
, vol.23
, pp. 635-644
-
-
Pardridge, W.M.1
-
174
-
-
0033827010
-
The neurochemistry of phenylketonuria
-
Surtees R., Blau N. The neurochemistry of phenylketonuria. Eur. J. Pediatr. 2000, 159(SUPPL. 2):S109-S113.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.SUPPL. 2
-
-
Surtees, R.1
Blau, N.2
-
175
-
-
34047251011
-
The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study
-
Schindeler S., Ghosh-Jerath S., Thompson S., Rocca A., Joy P., Kemp A., Rae C., Green K., Wilcken B., Christodoulou J. The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol. Genet. Metab. 2007, 91:48-54.
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 48-54
-
-
Schindeler, S.1
Ghosh-Jerath, S.2
Thompson, S.3
Rocca, A.4
Joy, P.5
Kemp, A.6
Rae, C.7
Green, K.8
Wilcken, B.9
Christodoulou, J.10
-
176
-
-
0348014925
-
Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults
-
Moats R.A., Moseley K.D., Koch R., Nelson M. Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults. Pediatrics 2003, 112:1575-1579.
-
(2003)
Pediatrics
, vol.112
, pp. 1575-1579
-
-
Moats, R.A.1
Moseley, K.D.2
Koch, R.3
Nelson, M.4
-
177
-
-
0033735447
-
Transport mechanisms of the large neutral amino acid l-phenylalanine in the human intestinal epithelial caco-2 cell line
-
Berger V., Larondelle Y., Trouet A., Schneider Y.J. Transport mechanisms of the large neutral amino acid l-phenylalanine in the human intestinal epithelial caco-2 cell line. J. Nutr. 2000, 130:2780-2788.
-
(2000)
J. Nutr.
, vol.130
, pp. 2780-2788
-
-
Berger, V.1
Larondelle, Y.2
Trouet, A.3
Schneider, Y.J.4
-
178
-
-
33751029864
-
Large neutral amino acids in the treatment of phenylketonuria (PKU)
-
Matalon R., Michals-Matalon K., Bhatia G., Grechanina E., Novikov P., McDonald J.D., Grady J., Tyring S.K., Guttler F. Large neutral amino acids in the treatment of phenylketonuria (PKU). J. Inherit. Metab. Dis. 2006, 29:732-738.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 732-738
-
-
Matalon, R.1
Michals-Matalon, K.2
Bhatia, G.3
Grechanina, E.4
Novikov, P.5
McDonald, J.D.6
Grady, J.7
Tyring, S.K.8
Guttler, F.9
-
179
-
-
0023764405
-
Effects of diet discontinuation and dietary tryptophan supplementation on neurotransmitter metabolism in phenylketonuria
-
Nielsen J.B., Lou H.C., Guttler F. Effects of diet discontinuation and dietary tryptophan supplementation on neurotransmitter metabolism in phenylketonuria. Brain Dysfunct. 1988, 1:51-56.
-
(1988)
Brain Dysfunct.
, vol.1
, pp. 51-56
-
-
Nielsen, J.B.1
Lou, H.C.2
Guttler, F.3
-
180
-
-
0021810717
-
Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria
-
Lou H. Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria. Lancet 1985, 2:150-151.
-
(1985)
Lancet
, vol.2
, pp. 150-151
-
-
Lou, H.1
-
181
-
-
0028587330
-
Unchanged MRI of myelin in adolescents with PKU supplied with non-phe essential amino acids after dietary relaxation
-
Lou H.C., Toft P.B., Andresen J., Mikkelsen I., Olsen B., Guldberg P., Guttler F. Unchanged MRI of myelin in adolescents with PKU supplied with non-phe essential amino acids after dietary relaxation. Acta Paediatr. 1994, 83:1312-1314.
-
(1994)
Acta Paediatr.
, vol.83
, pp. 1312-1314
-
-
Lou, H.C.1
Toft, P.B.2
Andresen, J.3
Mikkelsen, I.4
Olsen, B.5
Guldberg, P.6
Guttler, F.7
-
182
-
-
27144526483
-
Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria
-
Kalkanoglu H.S., Ahring K.K., Sertkaya D., Moller L.B., Romstad A., Mikkelsen I., Guldberg P., Lou H.C., Guttler F. Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria. Acta Paediatr. 2005, 94:1218-1222.
-
(2005)
Acta Paediatr.
, vol.94
, pp. 1218-1222
-
-
Kalkanoglu, H.S.1
Ahring, K.K.2
Sertkaya, D.3
Moller, L.B.4
Romstad, A.5
Mikkelsen, I.6
Guldberg, P.7
Lou, H.C.8
Guttler, F.9
-
183
-
-
79952551959
-
Large neutral amino acids in the treatment of PKU: from theory to practice
-
van Spronsen F.J., de Groot M.J., Hoeksma M., Reijngoud D.J., van Rijn M. Large neutral amino acids in the treatment of PKU: from theory to practice. J. Inherit. Metab. Dis. 2010, 33:671-676.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. 671-676
-
-
van Spronsen, F.J.1
de Groot, M.J.2
Hoeksma, M.3
Reijngoud, D.J.4
van Rijn, M.5
-
184
-
-
84897922519
-
Large neutral amino acids in daily practice
-
Ahring K.K. Large neutral amino acids in daily practice. J. Inherit. Metab. Dis. 2010, 33(SUPPL. 3):S187-S190.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, Issue.SUPPL. 3
-
-
Ahring, K.K.1
-
185
-
-
59749087136
-
Nutritional management of PKU with glycomacropeptide from cheese whey
-
Ney D.M., Gleason S.T., van Calcar S.C., MacLeod E.L., Nelson K.L., Etzel M.R., Rice G.M., Wolff J.A. Nutritional management of PKU with glycomacropeptide from cheese whey. J. Inherit. Metab. Dis. 2009, 32:32-39.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 32-39
-
-
Ney, D.M.1
Gleason, S.T.2
van Calcar, S.C.3
MacLeod, E.L.4
Nelson, K.L.5
Etzel, M.R.6
Rice, G.M.7
Wolff, J.A.8
-
186
-
-
34548432241
-
Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU
-
Lim K., van Calcar S.C., Nelson K.L., Gleason S.T., Ney D.M. Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU. Mol. Genet. Metab. 2007, 92:176-178.
-
(2007)
Mol. Genet. Metab.
, vol.92
, pp. 176-178
-
-
Lim, K.1
van Calcar, S.C.2
Nelson, K.L.3
Gleason, S.T.4
Ney, D.M.5
-
187
-
-
38949121264
-
Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria
-
Ney D.M., Hull A.K., van Calcar S.C., Liu X., Etzel M.R. Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria. J. Nutr. 2008, 138:316-322.
-
(2008)
J. Nutr.
, vol.138
, pp. 316-322
-
-
Ney, D.M.1
Hull, A.K.2
van Calcar, S.C.3
Liu, X.4
Etzel, M.R.5
-
188
-
-
77954229363
-
Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria
-
MacLeod E.L., Clayton M.K., van Calcar S.C., Ney D.M. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol. Genet. Metab. 2010, 100:303-308.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 303-308
-
-
MacLeod, E.L.1
Clayton, M.K.2
van Calcar, S.C.3
Ney, D.M.4
-
189
-
-
82755189438
-
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
-
Blau N., Hennermann J.B., Langenbeck U., Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol. Genet. Metab. 2011, 104:S2-S9. (SUPPL.).
-
(2011)
Mol. Genet. Metab.
, vol.104
, Issue.SUPPL.
-
-
Blau, N.1
Hennermann, J.B.2
Langenbeck, U.3
Lichter-Konecki, U.4
-
190
-
-
0019288144
-
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
-
Guttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. SUPPL. 1980, 280:1-80.
-
(1980)
Acta Paediatr. Scand. SUPPL.
, vol.280
, pp. 1-80
-
-
Guttler, F.1
-
191
-
-
59749086069
-
Phenylalanine tolerance can already reliably be assessed at the age of 2years in patients with PKU
-
van Spronsen F.J., van Rijn M., Dorgelo B., Hoeksma M., Bosch A.M., Mulder M.F., de Klerk J.B., de Koning T., Rubio-Gozalbo M.E., de Vries M., Verkerk P.H. Phenylalanine tolerance can already reliably be assessed at the age of 2years in patients with PKU. J. Inherit. Metab. Dis. 2009, 32:27-31.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 27-31
-
-
van Spronsen, F.J.1
van Rijn, M.2
Dorgelo, B.3
Hoeksma, M.4
Bosch, A.M.5
Mulder, M.F.6
de Klerk, J.B.7
de Koning, T.8
Rubio-Gozalbo, M.E.9
de Vries, M.10
Verkerk, P.H.11
-
192
-
-
0032745696
-
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
-
Enns G.M., Martinez D.R., Kuzmin A.I., Koch R., Wakeem C.K., Woo S.L., Eisensmith R.C., Packman S. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pediatr. Res. 1999, 46:594-602.
-
(1999)
Pediatr. Res.
, vol.46
, pp. 594-602
-
-
Enns, G.M.1
Martinez, D.R.2
Kuzmin, A.I.3
Koch, R.4
Wakeem, C.K.5
Woo, S.L.6
Eisensmith, R.C.7
Packman, S.8
-
193
-
-
77649244529
-
Variations in genotype-phenotype correlations in phenylketonuria patients
-
Santos L.L., Fonseca C.G., Starling A.L., Januario J.N., Aguiar M.J., Peixoto M.G., Carvalho M.R. Variations in genotype-phenotype correlations in phenylketonuria patients. Genet. Mol. Res. 2010, 9:1-8.
-
(2010)
Genet. Mol. Res.
, vol.9
, pp. 1-8
-
-
Santos, L.L.1
Fonseca, C.G.2
Starling, A.L.3
Januario, J.N.4
Aguiar, M.J.5
Peixoto, M.G.6
Carvalho, M.R.7
-
194
-
-
0033835894
-
PAH gene mutation analysis in clinical practice-comments on mutation analysis anticipates dietary requirements in phenylketonuria
-
Zschocke J., Hoffmann G.F. PAH gene mutation analysis in clinical practice-comments on mutation analysis anticipates dietary requirements in phenylketonuria. Eur. J. Pediatr. 2000, 159(SUPPL. 2):S154-S155.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.SUPPL. 2
-
-
Zschocke, J.1
Hoffmann, G.F.2
-
195
-
-
0027270101
-
Comparison of genotype and intellectual phenotype in untreated PKU patients
-
Ramus S.J., Forrest S.M., Pitt D.B., Saleeba J.A., Cotton R.G. Comparison of genotype and intellectual phenotype in untreated PKU patients. J. Med. Genet. 1993, 30:401-405.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 401-405
-
-
Ramus, S.J.1
Forrest, S.M.2
Pitt, D.B.3
Saleeba, J.A.4
Cotton, R.G.5
-
196
-
-
0027390018
-
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
-
Svensson E., von Dobeln U., Eisensmith R.C., Hagenfeldt L., Woo S.L. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur. J. Pediatr. 1993, 152:132-139.
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 132-139
-
-
Svensson, E.1
von Dobeln, U.2
Eisensmith, R.C.3
Hagenfeldt, L.4
Woo, S.L.5
-
197
-
-
0032231461
-
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
-
Guldberg P., Rey F., Zschocke J., Romano V., Francois B., Michiels L., Ullrich K., Hoffmann G.F., Burgard P., Schmidt H., Meli C., Riva E., Dianzani I., Ponzone A., Rey J., Guttler F. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am. J. Hum. Genet. 1998, 63:71-79.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
Romano, V.4
Francois, B.5
Michiels, L.6
Ullrich, K.7
Hoffmann, G.F.8
Burgard, P.9
Schmidt, H.10
Meli, C.11
Riva, E.12
Dianzani, I.13
Ponzone, A.14
Rey, J.15
Guttler, F.16
-
198
-
-
0029870179
-
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population
-
Eisensmith R.C., Martinez D.R., Kuzmin A.I., Goltsov A.A., Brown A., Singh R., Elsas L.J., Woo S.L. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. Pediatrics 1996, 97:512-516.
-
(1996)
Pediatrics
, vol.97
, pp. 512-516
-
-
Eisensmith, R.C.1
Martinez, D.R.2
Kuzmin, A.I.3
Goltsov, A.A.4
Brown, A.5
Singh, R.6
Elsas, L.J.7
Woo, S.L.8
-
200
-
-
0025745106
-
The natural history of untreated phenylketonuria over 20years
-
Pitt D.B., Danks D.M. The natural history of untreated phenylketonuria over 20years. J. Paediatr. Child Health 1991, 27:189-190.
-
(1991)
J. Paediatr. Child Health
, vol.27
, pp. 189-190
-
-
Pitt, D.B.1
Danks, D.M.2
-
201
-
-
0033977838
-
An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability
-
Fitzgerald B., Morgan J., Keene N., Rollinson R., Hodgson A., Dalrymple-Smith J. An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability. J. Intellect. Disabil. Res. 2000, 44(Pt 1):53-59.
-
(2000)
J. Intellect. Disabil. Res.
, vol.44
, Issue.PART 1
, pp. 53-59
-
-
Fitzgerald, B.1
Morgan, J.2
Keene, N.3
Rollinson, R.4
Hodgson, A.5
Dalrymple-Smith, J.6
-
202
-
-
66149104499
-
Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet
-
Lee P.J., Amos A., Robertson L., Fitzgerald B., Hoskin R., Lilburn M., Weetch E., Murphy G. Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet. J. Neurol. Neurosurg. Psychiatry 2009, 80:631-635.
-
(2009)
J. Neurol. Neurosurg. Psychiatry
, vol.80
, pp. 631-635
-
-
Lee, P.J.1
Amos, A.2
Robertson, L.3
Fitzgerald, B.4
Hoskin, R.5
Lilburn, M.6
Weetch, E.7
Murphy, G.8
-
203
-
-
76749115340
-
Late-treated phenylketonuria and partial reversibility of intellectual impairment
-
Grosse S.D. Late-treated phenylketonuria and partial reversibility of intellectual impairment. Child Dev. 2010, 81:200-211.
-
(2010)
Child Dev.
, vol.81
, pp. 200-211
-
-
Grosse, S.D.1
-
204
-
-
80051675515
-
Tetrahydrobiopterin: biochemistry and pathophysiology
-
Werner E.R., Blau N., Thony B. Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem. J. 2011, 438:397-414.
-
(2011)
Biochem. J.
, vol.438
, pp. 397-414
-
-
Werner, E.R.1
Blau, N.2
Thony, B.3
-
205
-
-
0033504353
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Kure S., Hou D.C., Ohura T., Iwamoto H., Suzuki S., Sugiyama N., Sakamoto O., Fujii K., Matsubara Y., Narisawa K. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J. Pediatr. 1999, 135:375-378.
-
(1999)
J. Pediatr.
, vol.135
, pp. 375-378
-
-
Kure, S.1
Hou, D.C.2
Ohura, T.3
Iwamoto, H.4
Suzuki, S.5
Sugiyama, N.6
Sakamoto, O.7
Fujii, K.8
Matsubara, Y.9
Narisawa, K.10
-
206
-
-
34248583457
-
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria
-
Fiege B., Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J. Pediatr. 2007, 150:627-630.
-
(2007)
J. Pediatr.
, vol.150
, pp. 627-630
-
-
Fiege, B.1
Blau, N.2
-
207
-
-
2542429299
-
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Blau N., Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 2004, 82:101-111.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 101-111
-
-
Blau, N.1
Erlandsen, H.2
-
208
-
-
8144220031
-
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations
-
Pey A.L., Perez B., Desviat L.R., Martinez M.A., Aguado C., Erlandsen H., Gamez A., Stevens R.C., Thorolfsson M., Ugarte M., Martinez A. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum. Mutat. 2004, 24:388-399.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 388-399
-
-
Pey, A.L.1
Perez, B.2
Desviat, L.R.3
Martinez, M.A.4
Aguado, C.5
Erlandsen, H.6
Gamez, A.7
Stevens, R.C.8
Thorolfsson, M.9
Ugarte, M.10
Martinez, A.11
-
209
-
-
79958701858
-
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
-
Staudigl M., Gersting S.W., Danecka M.K., Messing D.D., Woidy M., Pinkas D., Kemter K.F., Blau N., Muntau A.C. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum. Mol. Genet. 2011, 20:2628-2641.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2628-2641
-
-
Staudigl, M.1
Gersting, S.W.2
Danecka, M.K.3
Messing, D.D.4
Woidy, M.5
Pinkas, D.6
Kemter, K.F.7
Blau, N.8
Muntau, A.C.9
-
210
-
-
84879420029
-
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria
-
Heintz C., Cotton R.G., Blau N. Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum. Mutat. 2013, 34:927-936.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 927-936
-
-
Heintz, C.1
Cotton, R.G.2
Blau, N.3
-
211
-
-
4744342508
-
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Kure S., Sato K., Fujii K., Aoki Y., Suzuki Y., Kato S., Matsubara Y. Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 2004, 83:150-156.
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 150-156
-
-
Kure, S.1
Sato, K.2
Fujii, K.3
Aoki, Y.4
Suzuki, Y.5
Kato, S.6
Matsubara, Y.7
-
212
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
Muntau A.C., Roschinger W., Habich M., Demmelmair H., Hoffmann B., Sommerhoff C.P., Roscher A.A. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N. Engl. J. Med. 2002, 347:2122-2132.
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
Demmelmair, H.4
Hoffmann, B.5
Sommerhoff, C.P.6
Roscher, A.A.7
-
213
-
-
34250791937
-
Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
-
Zhang Z.X., Ye J., Qiu W.J., Han L.S., Gu X.F. Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test. Zhonghua Er Ke Za Zhi 2005, 43:335-339.
-
(2005)
Zhonghua Er Ke Za Zhi
, vol.43
, pp. 335-339
-
-
Zhang, Z.X.1
Ye, J.2
Qiu, W.J.3
Han, L.S.4
Gu, X.F.5
-
214
-
-
67349161346
-
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
-
Karacic I., Meili D., Sarnavka V., Heintz C., Thony B., Ramadza D.P., Fumic K., Mardesic D., Baric I., Blau N. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol. Genet. Metab. 2009, 97:165-171.
-
(2009)
Mol. Genet. Metab.
, vol.97
, pp. 165-171
-
-
Karacic, I.1
Meili, D.2
Sarnavka, V.3
Heintz, C.4
Thony, B.5
Ramadza, D.P.6
Fumic, K.7
Mardesic, D.8
Baric, I.9
Blau, N.10
-
215
-
-
38149014672
-
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Zurfluh M.R., Zschocke J., Lindner M., Feillet F., Chery C., Burlina A., Stevens R.C., Thony B., Blau N. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum. Mutat. 2008, 29:167-175.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 167-175
-
-
Zurfluh, M.R.1
Zschocke, J.2
Lindner, M.3
Feillet, F.4
Chery, C.5
Burlina, A.6
Stevens, R.C.7
Thony, B.8
Blau, N.9
-
216
-
-
78651445905
-
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
-
Dobrowolski S.F., Heintz C., Miller T., Ellingson C., Ellingson C., Ozer I., Gokcay G., Baykal T., Thony B., Demirkol M., Blau N. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol. Genet. Metab. 2011, 102:116-121.
-
(2011)
Mol. Genet. Metab.
, vol.102
, pp. 116-121
-
-
Dobrowolski, S.F.1
Heintz, C.2
Miller, T.3
Ellingson, C.4
Ellingson, C.5
Ozer, I.6
Gokcay, G.7
Baykal, T.8
Thony, B.9
Demirkol, M.10
Blau, N.11
-
217
-
-
84856081639
-
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients
-
Utz J.R., Lorentz C.P., Markowitz D., Rudser K.D., Diethelm-Okita B., Erickson D., Whitley C.B. START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients. Mol. Genet. Metab. 2012, 105:193-197.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 193-197
-
-
Utz, J.R.1
Lorentz, C.P.2
Markowitz, D.3
Rudser, K.D.4
Diethelm-Okita, B.5
Erickson, D.6
Whitley, C.B.7
-
218
-
-
0000138089
-
Disorders of tetrahydrobiopterin and related biogenic amines
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogestein (Eds.)
-
Blau N., Thony B., Cotton R.G.H., Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. The Metabolic and Molecular Bases of Inherited Disease 2001, 1725-1776. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogestein (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1725-1776
-
-
Blau, N.1
Thony, B.2
Cotton, R.G.H.3
Hyland, K.4
-
219
-
-
0030877470
-
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
-
Thony B., Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum. Mutat. 1997, 10:11-20.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 11-20
-
-
Thony, B.1
Blau, N.2
-
220
-
-
0031595628
-
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
-
Thony B., Neuheiser F., Kierat L., Rolland M.O., Guibaud P., Schluter T., Germann R., Heidenreich R.A., Duran M., de Klerk J.B., Ayling J.E., Blau N. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum. Genet. 1998, 103:162-167.
-
(1998)
Hum. Genet.
, vol.103
, pp. 162-167
-
-
Thony, B.1
Neuheiser, F.2
Kierat, L.3
Rolland, M.O.4
Guibaud, P.5
Schluter, T.6
Germann, R.7
Heidenreich, R.A.8
Duran, M.9
de Klerk, J.B.10
Ayling, J.E.11
Blau, N.12
-
221
-
-
7344244334
-
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations
-
Dianzani I., de Sanctis L., Smooker P.M., Gough T.J., Alliaudi C., Brusco A., Spada M., Blau N., Dobos M., Zhang H.P., Yang N., Ponzone A., Armarego W.L., Cotton R.G. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum. Mutat. 1998, 12:267-273.
-
(1998)
Hum. Mutat.
, vol.12
, pp. 267-273
-
-
Dianzani, I.1
de Sanctis, L.2
Smooker, P.M.3
Gough, T.J.4
Alliaudi, C.5
Brusco, A.6
Spada, M.7
Blau, N.8
Dobos, M.9
Zhang, H.P.10
Yang, N.11
Ponzone, A.12
Armarego, W.L.13
Cotton, R.G.14
-
222
-
-
0034928621
-
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
-
Bonafe L., Thony B., Penzien J.M., Czarnecki B., Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am. J. Hum. Genet. 2001, 69:269-277.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 269-277
-
-
Bonafe, L.1
Thony, B.2
Penzien, J.M.3
Czarnecki, B.4
Blau, N.5
-
223
-
-
0034788778
-
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
-
Blau N., Bonafe L., Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol. Genet. Metab. 2001, 74:172-185.
-
(2001)
Mol. Genet. Metab.
, vol.74
, pp. 172-185
-
-
Blau, N.1
Bonafe, L.2
Thony, B.3
-
224
-
-
0028033734
-
Regulation of rat liver phenylalanine hydroxylase. III. Control of catalysis by (6R)-tetrahydrobiopterin and phenylalanine
-
Xia T., Gray D.W., Shiman R. Regulation of rat liver phenylalanine hydroxylase. III. Control of catalysis by (6R)-tetrahydrobiopterin and phenylalanine. J. Biol. Chem. 1994, 269:24657-24665.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 24657-24665
-
-
Xia, T.1
Gray, D.W.2
Shiman, R.3
-
225
-
-
0029062377
-
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency
-
Goldstein D.S., Hahn S.H., Holmes C., Tifft C., Harvey-White J., Milstien S., Kaufman S. Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. J. Neurochem. 1995, 64:2810-2813.
-
(1995)
J. Neurochem.
, vol.64
, pp. 2810-2813
-
-
Goldstein, D.S.1
Hahn, S.H.2
Holmes, C.3
Tifft, C.4
Harvey-White, J.5
Milstien, S.6
Kaufman, S.7
-
226
-
-
77957018961
-
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Lagler F.B., Gersting S.W., Zsifkovits C., Steinbacher A., Eichinger A., Danecka M.K., Staudigl M., Fingerhut R., Glossmann H., Muntau A.C. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Biochem. Pharmacol. 2010, 80:1563-1571.
-
(2010)
Biochem. Pharmacol.
, vol.80
, pp. 1563-1571
-
-
Lagler, F.B.1
Gersting, S.W.2
Zsifkovits, C.3
Steinbacher, A.4
Eichinger, A.5
Danecka, M.K.6
Staudigl, M.7
Fingerhut, R.8
Glossmann, H.9
Muntau, A.C.10
-
227
-
-
0347086140
-
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration
-
Fiege B., Ballhausen D., Kierat L., Leimbacher W., Goriounov D., Schircks B., Thony B., Blau N. Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol. Genet. Metab. 2004, 81:45-51.
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 45-51
-
-
Fiege, B.1
Ballhausen, D.2
Kierat, L.3
Leimbacher, W.4
Goriounov, D.5
Schircks, B.6
Thony, B.7
Blau, N.8
-
228
-
-
0004027211
-
-
American Society of Health-Systems Pharmacists, Bethesda, MD
-
DiPiro J.T., Spruill W.J., Wade W.E., Blouin R.A., Pruemer J.M. Concepts in Clinical Pharmacokinetics 2010, American Society of Health-Systems Pharmacists, Bethesda, MD.
-
(2010)
Concepts in Clinical Pharmacokinetics
-
-
DiPiro, J.T.1
Spruill, W.J.2
Wade, W.E.3
Blouin, R.A.4
Pruemer, J.M.5
-
229
-
-
50949097905
-
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia
-
Feillet F., Chery C., Namour F., Kimmoun A., Favre E., Lorentz E., Battaglia-Hsu S.F., Gueant J.L. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. Early Hum. Dev. 2008, 84:561-567.
-
(2008)
Early Hum. Dev.
, vol.84
, pp. 561-567
-
-
Feillet, F.1
Chery, C.2
Namour, F.3
Kimmoun, A.4
Favre, E.5
Lorentz, E.6
Battaglia-Hsu, S.F.7
Gueant, J.L.8
-
230
-
-
64649100230
-
Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia
-
Sanford M., Keating G.M. Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia. Drugs 2009, 69:461-476.
-
(2009)
Drugs
, vol.69
, pp. 461-476
-
-
Sanford, M.1
Keating, G.M.2
-
231
-
-
56049113280
-
Safety and efficacy of 22weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
-
Lee P., Treacy E.P., Crombez E., Wasserstein M., Waber L., Wolff J., Wendel U., Dorenbaum A., Bebchuk J., Christ-Schmidt H., Seashore M., Giovannini M., Burton B.K., Morris A.A. Safety and efficacy of 22weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am. J. Med. Genet. A 2008, 146A:2851-2859.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 2851-2859
-
-
Lee, P.1
Treacy, E.P.2
Crombez, E.3
Wasserstein, M.4
Waber, L.5
Wolff, J.6
Wendel, U.7
Dorenbaum, A.8
Bebchuk, J.9
Christ-Schmidt, H.10
Seashore, M.11
Giovannini, M.12
Burton, B.K.13
Morris, A.A.14
-
232
-
-
33751064142
-
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency
-
Zurfluh M.R., Fiori L., Fiege B., Ozen I., Demirkol M., Gartner K.H., Thony B., Giovannini M., Blau N. Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. J. Inherit. Metab. Dis. 2006, 29:725-731.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 725-731
-
-
Zurfluh, M.R.1
Fiori, L.2
Fiege, B.3
Ozen, I.4
Demirkol, M.5
Gartner, K.H.6
Thony, B.7
Giovannini, M.8
Blau, N.9
-
233
-
-
56749139651
-
Pharmacokinetics of sapropterin in patients with phenylketonuria
-
Feillet F., Clarke L., Meli C., Lipson M., Morris A.A., Harmatz P., Mould D.R., Green B., Dorenbaum A., Giovannini M., Foehr E. Pharmacokinetics of sapropterin in patients with phenylketonuria. Clin. Pharmacokinet. 2008, 47:817-825.
-
(2008)
Clin. Pharmacokinet.
, vol.47
, pp. 817-825
-
-
Feillet, F.1
Clarke, L.2
Meli, C.3
Lipson, M.4
Morris, A.A.5
Harmatz, P.6
Mould, D.R.7
Green, B.8
Dorenbaum, A.9
Giovannini, M.10
Foehr, E.11
-
234
-
-
77952483396
-
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
-
Gersting S.W., Lagler F.B., Eichinger A., Kemter K.F., Danecka M.K., Messing D.D., Staudigl M., Domdey K.A., Zsifkovits C., Fingerhut R., Glossmann H., Roscher A.A., Muntau A.C. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Hum. Mol. Genet. 2010, 19:2039-2049.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2039-2049
-
-
Gersting, S.W.1
Lagler, F.B.2
Eichinger, A.3
Kemter, K.F.4
Danecka, M.K.5
Messing, D.D.6
Staudigl, M.7
Domdey, K.A.8
Zsifkovits, C.9
Fingerhut, R.10
Glossmann, H.11
Roscher, A.A.12
Muntau, A.C.13
-
235
-
-
69949094309
-
Sapropterin: a new therapeutic agent for phenylketonuria
-
Hegge K.A., Horning K.K., Peitz G.J., Hegge K. Sapropterin: a new therapeutic agent for phenylketonuria. Ann. Pharmacother. 2009, 43:1466-1473.
-
(2009)
Ann. Pharmacother.
, vol.43
, pp. 1466-1473
-
-
Hegge, K.A.1
Horning, K.K.2
Peitz, G.J.3
Hegge, K.4
-
236
-
-
59749087015
-
PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders
-
van Spronsen F.J., Ahring K.K., Gizewska M. PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders. J. Inherit. Metab. Dis. 2009, 32:58-64.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 58-64
-
-
van Spronsen, F.J.1
Ahring, K.K.2
Gizewska, M.3
-
237
-
-
73749088607
-
Management of phenylketonuria in Europe: survey results from 19 countries
-
Blau N., Belanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F.K., van Spronsen F. Management of phenylketonuria in Europe: survey results from 19 countries. Mol. Genet. Metab. 2010, 99:109-115.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 109-115
-
-
Blau, N.1
Belanger-Quintana, A.2
Demirkol, M.3
Feillet, F.4
Giovannini, M.5
MacDonald, A.6
Trefz, F.K.7
van Spronsen, F.8
-
238
-
-
0035073726
-
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia
-
Weglage J., Pietsch M., Feldmann R., Koch H.G., Zschocke J., Hoffmann G., Muntau-Heger A., Denecke J., Guldberg P., Guttler F., Moller H., Wendel U., Ullrich K., Harms E. Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr. Res. 2001, 49:532-536.
-
(2001)
Pediatr. Res.
, vol.49
, pp. 532-536
-
-
Weglage, J.1
Pietsch, M.2
Feldmann, R.3
Koch, H.G.4
Zschocke, J.5
Hoffmann, G.6
Muntau-Heger, A.7
Denecke, J.8
Guldberg, P.9
Guttler, F.10
Moller, H.11
Wendel, U.12
Ullrich, K.13
Harms, E.14
-
239
-
-
79952623974
-
The effect of blood phenylalanine concentration on Kuvan response in phenylketonuria
-
Elsas L.J., Greto J., Wierenga A. The effect of blood phenylalanine concentration on Kuvan response in phenylketonuria. Mol. Genet. Metab. 2011, 102:407-412.
-
(2011)
Mol. Genet. Metab.
, vol.102
, pp. 407-412
-
-
Elsas, L.J.1
Greto, J.2
Wierenga, A.3
-
240
-
-
59749092734
-
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria
-
Trefz F.K., Scheible D., Gotz H., Frauendienst-Egger G. Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. J. Inherit. Metab. Dis. 2009, 32:22-26.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 22-26
-
-
Trefz, F.K.1
Scheible, D.2
Gotz, H.3
Frauendienst-Egger, G.4
-
241
-
-
40749123045
-
Defining tetrahydrobiopterin (BH4)-responsiveness in PKU
-
Blau N. Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. J. Inherit. Metab. Dis. 2008, 31:2-3.
-
(2008)
J. Inherit. Metab. Dis.
, vol.31
, pp. 2-3
-
-
Blau, N.1
-
242
-
-
77950102318
-
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
-
Leuzzi V., Carducci C.A., Carducci C.L., Pozzessere S., Burlina A., Cerone R., Concolino D., Donati M.A., Fiori L., Meli C., Ponzone A., Porta F., Strisciuglio P., Antonozzi I., Blau N. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin. Genet. 2010, 77:249-257.
-
(2010)
Clin. Genet.
, vol.77
, pp. 249-257
-
-
Leuzzi, V.1
Carducci, C.A.2
Carducci, C.L.3
Pozzessere, S.4
Burlina, A.5
Cerone, R.6
Concolino, D.7
Donati, M.A.8
Fiori, L.9
Meli, C.10
Ponzone, A.11
Porta, F.12
Strisciuglio, P.13
Antonozzi, I.14
Blau, N.15
-
243
-
-
69449106872
-
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control
-
Lindner M., Gramer G., Garbade S.F., Burgard P. Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control. J. Inherit. Metab. Dis. 2009, 32:514-522.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 514-522
-
-
Lindner, M.1
Gramer, G.2
Garbade, S.F.3
Burgard, P.4
-
244
-
-
79952556731
-
BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up
-
Singh R.H., Quirk M.E., Douglas T.D., Brauchla M.C. BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up. J. Inherit. Metab. Dis. 2010, 33:689-695.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. 689-695
-
-
Singh, R.H.1
Quirk, M.E.2
Douglas, T.D.3
Brauchla, M.C.4
-
245
-
-
84885431162
-
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria
-
White D.A., Antenor-Dorsey J.A., Grange D.K., Hershey T., Rutlin J., Shimony J.S., McKinstry R.C., Christ S.E. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol. Genet. Metab. 2013, 110:213-217.
-
(2013)
Mol. Genet. Metab.
, vol.110
, pp. 213-217
-
-
White, D.A.1
Antenor-Dorsey, J.A.2
Grange, D.K.3
Hershey, T.4
Rutlin, J.5
Shimony, J.S.6
McKinstry, R.C.7
Christ, S.E.8
-
246
-
-
77649092426
-
Relative bioavailability of sapropterin from intact and dissolved sapropterin dihydrochloride tablets and the effects of food: a randomized, open-label, crossover study in healthy adults
-
Musson D.G., Kramer W.G., Foehr E.D., Bieberdorf F.A., Hornfeldt C.S., Kim S.S., Dorenbaum A. Relative bioavailability of sapropterin from intact and dissolved sapropterin dihydrochloride tablets and the effects of food: a randomized, open-label, crossover study in healthy adults. Clin. Ther. 2010, 32:338-346.
-
(2010)
Clin. Ther.
, vol.32
, pp. 338-346
-
-
Musson, D.G.1
Kramer, W.G.2
Foehr, E.D.3
Bieberdorf, F.A.4
Hornfeldt, C.S.5
Kim, S.S.6
Dorenbaum, A.7
-
247
-
-
82755197582
-
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration
-
Anjema K., Venema G., Hofstede F.C., Carbasius Weber E.C., Bosch A.M., Ter Horst N.M., Hollak C.E., Jonkers C.F., Rubio-Gozalbo M.E., van der Ploeg E.M., de Vries M.C., Janssen-Regelink R.G., Janssen M.C., Zweers-van Essen H., Boelen C.C., van der Herberg-van de Wetering N.A., Heiner-Fokkema M.R., van Rijn M., van Spronsen F.J. The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration. Mol. Genet. Metab. 2011, 104:S60-S63.
-
(2011)
Mol. Genet. Metab.
, vol.104
-
-
Anjema, K.1
Venema, G.2
Hofstede, F.C.3
Carbasius Weber, E.C.4
Bosch, A.M.5
Ter Horst, N.M.6
Hollak, C.E.7
Jonkers, C.F.8
Rubio-Gozalbo, M.E.9
van der Ploeg, E.M.10
de Vries, M.C.11
Janssen-Regelink, R.G.12
Janssen, M.C.13
Zweers-van Essen, H.14
Boelen, C.C.15
van der Herberg-van de Wetering, N.A.16
Heiner-Fokkema, M.R.17
van Rijn, M.18
van Spronsen, F.J.19
-
248
-
-
77649233104
-
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation
-
Nielsen J.B., Nielsen K.E., Guttler F. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. J. Inherit. Metab. Dis. 2010, 33:9-16.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. 9-16
-
-
Nielsen, J.B.1
Nielsen, K.E.2
Guttler, F.3
-
249
-
-
79960842692
-
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria
-
Bik-Multanowski M., Pietrzyk J.J. Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. Mol. Genet. Metab. 2011, 103:399-400.
-
(2011)
Mol. Genet. Metab.
, vol.103
, pp. 399-400
-
-
Bik-Multanowski, M.1
Pietrzyk, J.J.2
-
250
-
-
0022545577
-
2 in healthy subjects, phenylketonuria heterozygotes and classic phenylketonurics
-
2 in healthy subjects, phenylketonuria heterozygotes and classic phenylketonurics. Clin. Chim. Acta 1986, 157:253-266.
-
(1986)
Clin. Chim. Acta
, vol.157
, pp. 253-266
-
-
Lehmann, W.D.1
Fischer, R.2
Heinrich, H.C.3
Clemens, P.4
Gruttner, R.5
-
251
-
-
0030849458
-
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using l-[1-13C]phenylalanine oxidation rates in vivo: a pilot study
-
Treacy E.P., Delente J.J., Elkas G., Carter K., Lambert M., Waters P.J., Scriver C.R. Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using l-[1-13C]phenylalanine oxidation rates in vivo: a pilot study. Pediatr. Res. 1997, 42:430-435.
-
(1997)
Pediatr. Res.
, vol.42
, pp. 430-435
-
-
Treacy, E.P.1
Delente, J.J.2
Elkas, G.3
Carter, K.4
Lambert, M.5
Waters, P.J.6
Scriver, C.R.7
-
252
-
-
6344293954
-
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Okano Y., Hase Y., Kawajiri M., Nishi Y., Inui K., Sakai N., Tanaka Y., Takatori K., Kajiwara M., Yamano T. In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Pediatr. Res. 2004, 56:714-719.
-
(2004)
Pediatr. Res.
, vol.56
, pp. 714-719
-
-
Okano, Y.1
Hase, Y.2
Kawajiri, M.3
Nishi, Y.4
Inui, K.5
Sakai, N.6
Tanaka, Y.7
Takatori, K.8
Kajiwara, M.9
Yamano, T.10
-
253
-
-
10044279157
-
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
-
Erlandsen H., Pey A.L., Gamez A., Perez B., Desviat L.R., Aguado C., Koch R., Surendran S., Tyring S., Matalon R., Scriver C.R., Ugarte M., Martinez A., Stevens R.C. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:16903-16908.
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 16903-16908
-
-
Erlandsen, H.1
Pey, A.L.2
Gamez, A.3
Perez, B.4
Desviat, L.R.5
Aguado, C.6
Koch, R.7
Surendran, S.8
Tyring, S.9
Matalon, R.10
Scriver, C.R.11
Ugarte, M.12
Martinez, A.13
Stevens, R.C.14
-
254
-
-
58349090537
-
Tetrahydrobiopterin in biomedical research
-
Blau N., Thony B. Tetrahydrobiopterin in biomedical research. J. Inherit. Metab. Dis. 2009, 32:1-2.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 1-2
-
-
Blau, N.1
Thony, B.2
-
255
-
-
10744223885
-
Biopterin responsive phenylalanine hydroxylase deficiency
-
Matalon R., Koch R., Michals-Matalon K., Moseley K., Surendran S., Tyring S., Erlandsen H., Gamez A., Stevens R.C., Romstad A., Moller L.B., Guttler F. Biopterin responsive phenylalanine hydroxylase deficiency. Genet. Med. 2004, 6:27-32.
-
(2004)
Genet. Med.
, vol.6
, pp. 27-32
-
-
Matalon, R.1
Koch, R.2
Michals-Matalon, K.3
Moseley, K.4
Surendran, S.5
Tyring, S.6
Erlandsen, H.7
Gamez, A.8
Stevens, R.C.9
Romstad, A.10
Moller, L.B.11
Guttler, F.12
-
256
-
-
77953028870
-
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
-
Vernon H.J., Koerner C.B., Johnson M.R., Bergner A., Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol. Genet. Metab. 2010, 100:229-233.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 229-233
-
-
Vernon, H.J.1
Koerner, C.B.2
Johnson, M.R.3
Bergner, A.4
Hamosh, A.5
-
258
-
-
28844468010
-
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study
-
Fiege B., Bonafe L., Ballhausen D., Baumgartner M., Thony B., Meili D., Fiori L., Giovannini M., Blau N. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol. Genet. Metab. 2005, 86(SUPPL. 1):S91-S95.
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Fiege, B.1
Bonafe, L.2
Ballhausen, D.3
Baumgartner, M.4
Thony, B.5
Meili, D.6
Fiori, L.7
Giovannini, M.8
Blau, N.9
-
259
-
-
84867861085
-
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
-
Opladen T., Hoffmann G.F., Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J. Inherit. Metab. Dis. 2012, 35:963-973.
-
(2012)
J. Inherit. Metab. Dis.
, vol.35
, pp. 963-973
-
-
Opladen, T.1
Hoffmann, G.F.2
Blau, N.3
-
260
-
-
79951576257
-
Tetrahydrobiopterin therapy for phenylketonuria in infants and young children
-
Burton B.K., Adams D.J., Grange D.K., Malone J.I., Jurecki E., Bausell H., Marra K.D., Sprietsma L., Swan K.T. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J. Pediatr. 2011, 158:410-415.
-
(2011)
J. Pediatr.
, vol.158
, pp. 410-415
-
-
Burton, B.K.1
Adams, D.J.2
Grange, D.K.3
Malone, J.I.4
Jurecki, E.5
Bausell, H.6
Marra, K.D.7
Sprietsma, L.8
Swan, K.T.9
-
261
-
-
0032783465
-
Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria
-
Koch R., Moseley K., Ning J., Romstad A., Guldberg P., Guttler F. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria. Mol. Genet. Metab. 1999, 67:148-155.
-
(1999)
Mol. Genet. Metab.
, vol.67
, pp. 148-155
-
-
Koch, R.1
Moseley, K.2
Ning, J.3
Romstad, A.4
Guldberg, P.5
Guttler, F.6
-
262
-
-
0036353190
-
Mental illness in mild PKU responds to biopterin
-
Koch R., Guttler F., Blau N. Mental illness in mild PKU responds to biopterin. Mol. Genet. Metab. 2002, 75:284-286.
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 284-286
-
-
Koch, R.1
Guttler, F.2
Blau, N.3
-
263
-
-
84901603247
-
Pilot Study to Evaluate the Effects of Sapropterin on Adult Individuals with Phenylketonuria with Measurable Maladaptive Behaviors
-
Yano S., Moseley K., Ottina J., Azen C., Koch R. Pilot Study to Evaluate the Effects of Sapropterin on Adult Individuals with Phenylketonuria with Measurable Maladaptive Behaviors. J. Inherit Metab. Dis. 2010, 33(SUPPL. 1):S1-S197.
-
(2010)
J. Inherit Metab. Dis.
, vol.33
, Issue.SUPPL. 1
-
-
Yano, S.1
Moseley, K.2
Ottina, J.3
Azen, C.4
Koch, R.5
-
264
-
-
84881349966
-
Newborn screening 50years later: access issues faced by adults with PKU
-
Berry S.A., Brown C., Grant M., Greene C.L., Jurecki E., Koch J., Moseley K., Suter R., van Calcar S.C., Wiles J., Cederbaum S. Newborn screening 50years later: access issues faced by adults with PKU. Genet. Med. 2013, 15:591-599.
-
(2013)
Genet. Med.
, vol.15
, pp. 591-599
-
-
Berry, S.A.1
Brown, C.2
Grant, M.3
Greene, C.L.4
Jurecki, E.5
Koch, J.6
Moseley, K.7
Suter, R.8
van Calcar, S.C.9
Wiles, J.10
Cederbaum, S.11
-
265
-
-
0025855241
-
Molecular basis of phenotypic heterogeneity in phenylketonuria
-
Okano Y., Eisensmith R.C., Guttler F., Lichter-Konecki U., Konecki D.S., Trefz F.K., Dasovich M., Wang T., Henriksen K., Lou H., et al. Molecular basis of phenotypic heterogeneity in phenylketonuria. N. Engl. J. Med. 1991, 324:1232-1238.
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 1232-1238
-
-
Okano, Y.1
Eisensmith, R.C.2
Guttler, F.3
Lichter-Konecki, U.4
Konecki, D.S.5
Trefz, F.K.6
Dasovich, M.7
Wang, T.8
Henriksen, K.9
Lou, H.10
-
266
-
-
0021918515
-
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
-
Kwok S.C., Ledley F.D., DiLella A.G., Robson K.J., Woo S.L. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985, 24:556-561.
-
(1985)
Biochemistry
, vol.24
, pp. 556-561
-
-
Kwok, S.C.1
Ledley, F.D.2
DiLella, A.G.3
Robson, K.J.4
Woo, S.L.5
-
268
-
-
84866152937
-
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
-
Sarkissian C.N., Gamez A., Scott P., Dauvillier J., Dorenbaum A., Scriver C.R., Stevens R.C. Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?. JIMD Rep. 2012, 5:59-70.
-
(2012)
JIMD Rep.
, vol.5
, pp. 59-70
-
-
Sarkissian, C.N.1
Gamez, A.2
Scott, P.3
Dauvillier, J.4
Dorenbaum, A.5
Scriver, C.R.6
Stevens, R.C.7
-
269
-
-
34249297376
-
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
-
Dobrowolski S.F., Ellingson C., Coyne T., Grey J., Martin R., Naylor E.W., Koch R., Levy H.L. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol. Genet. Metab. 2007, 91:218-227.
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 218-227
-
-
Dobrowolski, S.F.1
Ellingson, C.2
Coyne, T.3
Grey, J.4
Martin, R.5
Naylor, E.W.6
Koch, R.7
Levy, H.L.8
-
270
-
-
67650806457
-
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin
-
Dobrowolski S.F., Borski K., Ellingson C.C., Koch R., Levy H.L., Naylor E.W. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J. Hum. Genet. 2009, 54:335-339.
-
(2009)
J. Hum. Genet.
, vol.54
, pp. 335-339
-
-
Dobrowolski, S.F.1
Borski, K.2
Ellingson, C.C.3
Koch, R.4
Levy, H.L.5
Naylor, E.W.6
-
271
-
-
0037389131
-
The molecular basis of phenylketonuria in Lithuania
-
Kasnauskiene J., Giannattasio S., Lattanzio P., Cimbalistiene L., Kucinskas V. The molecular basis of phenylketonuria in Lithuania. Hum. Mutat. 2003, 21:398.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 398
-
-
Kasnauskiene, J.1
Giannattasio, S.2
Lattanzio, P.3
Cimbalistiene, L.4
Kucinskas, V.5
-
272
-
-
0030766281
-
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
-
Guzzetta V., Bonapace G., Dianzani I., Parenti G., Lecora M., Giannattasio S., Concolino D., Strisciuglio P., Sebastio G., Andria G. Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene. J. Inherit. Metab. Dis. 1997, 20:619-624.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 619-624
-
-
Guzzetta, V.1
Bonapace, G.2
Dianzani, I.3
Parenti, G.4
Lecora, M.5
Giannattasio, S.6
Concolino, D.7
Strisciuglio, P.8
Sebastio, G.9
Andria, G.10
-
273
-
-
71949122812
-
Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria
-
Kang T.S., Wang L., Sarkissian C.N., Gamez A., Scriver C.R., Stevens R.C. Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria. Mol. Genet. Metab. 2010, 99:4-9.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 4-9
-
-
Kang, T.S.1
Wang, L.2
Sarkissian, C.N.3
Gamez, A.4
Scriver, C.R.5
Stevens, R.C.6
-
274
-
-
82455199281
-
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria
-
Sarkissian C.N., Kang T.S., Gamez A., Scriver C.R., Stevens R.C. Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria. Mol. Genet. Metab. 2011, 104:249-254.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 249-254
-
-
Sarkissian, C.N.1
Kang, T.S.2
Gamez, A.3
Scriver, C.R.4
Stevens, R.C.5
-
275
-
-
77957320788
-
L-Phenylalanine concentration in blood of phenylketonuria patients: a modified enzyme colorimetric assay compared with amino acid analysis, tandem mass spectrometry, and HPLC methods
-
De Silva V., Oldham C.D., May S.W. l-Phenylalanine concentration in blood of phenylketonuria patients: a modified enzyme colorimetric assay compared with amino acid analysis, tandem mass spectrometry, and HPLC methods. Clin. Chem. Lab. Med. 2010, 48:1271-1279.
-
(2010)
Clin. Chem. Lab. Med.
, vol.48
, pp. 1271-1279
-
-
De Silva, V.1
Oldham, C.D.2
May, S.W.3
-
276
-
-
59749088730
-
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients
-
Dobrowolski S.F., Pey A.L., Koch R., Levy H., Ellingson C.C., Naylor E.W., Martinez A. Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J. Inherit. Metab. Dis. 2009, 32:10-21.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 10-21
-
-
Dobrowolski, S.F.1
Pey, A.L.2
Koch, R.3
Levy, H.4
Ellingson, C.C.5
Naylor, E.W.6
Martinez, A.7
-
277
-
-
56249120222
-
Crystal structure of tryptophan hydroxylase with bound amino acid substrate
-
Windahl M.S., Petersen C.R., Christensen H.E., Harris P. Crystal structure of tryptophan hydroxylase with bound amino acid substrate. Biochemistry 2008, 47:12087-12094.
-
(2008)
Biochemistry
, vol.47
, pp. 12087-12094
-
-
Windahl, M.S.1
Petersen, C.R.2
Christensen, H.E.3
Harris, P.4
-
278
-
-
47149088106
-
Progress toward cell-directed therapy for phenylketonuria
-
Harding C. Progress toward cell-directed therapy for phenylketonuria. Clin. Genet. 2008, 74:97-104.
-
(2008)
Clin. Genet.
, vol.74
, pp. 97-104
-
-
Harding, C.1
-
279
-
-
77955492904
-
Challenges and pitfalls in the management of phenylketonuria
-
Feillet F., van Spronsen F.J., MacDonald A., Trefz F.K., Demirkol M., Giovannini M., Belanger-Quintana A., Blau N. Challenges and pitfalls in the management of phenylketonuria. Pediatrics 2010, 126:333-341.
-
(2010)
Pediatrics
, vol.126
, pp. 333-341
-
-
Feillet, F.1
van Spronsen, F.J.2
MacDonald, A.3
Trefz, F.K.4
Demirkol, M.5
Giovannini, M.6
Belanger-Quintana, A.7
Blau, N.8
-
280
-
-
0027214099
-
Correction of phenylketonuria after liver transplantation in a child with cirrhosis
-
Vajro P., Strisciuglio P., Houssin D., Huault G., Laurent J., Alvarez F., Bernard O. Correction of phenylketonuria after liver transplantation in a child with cirrhosis. N. Engl. J. Med. 1993, 329:363.
-
(1993)
N. Engl. J. Med.
, vol.329
, pp. 363
-
-
Vajro, P.1
Strisciuglio, P.2
Houssin, D.3
Huault, G.4
Laurent, J.5
Alvarez, F.6
Bernard, O.7
-
281
-
-
79952565475
-
Therapeutic liver repopulation for phenylketonuria
-
Harding C.O., Gibson K.M. Therapeutic liver repopulation for phenylketonuria. J. Inherit. Metab. Dis. 2010, 33:681-687.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. 681-687
-
-
Harding, C.O.1
Gibson, K.M.2
-
282
-
-
0036928286
-
Principles of hepatocyte repopulation
-
Laconi E., Laconi S. Principles of hepatocyte repopulation. Semin. Cell Dev. Biol. 2002, 13:433-438.
-
(2002)
Semin. Cell Dev. Biol.
, vol.13
, pp. 433-438
-
-
Laconi, E.1
Laconi, S.2
-
283
-
-
22644447675
-
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria
-
Hamman K., Clark H., Montini E., Al-Dhalimy M., Grompe M., Finegold M., Harding C.O. Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria. Mol. Ther. 2005, 12:337-344.
-
(2005)
Mol. Ther.
, vol.12
, pp. 337-344
-
-
Hamman, K.1
Clark, H.2
Montini, E.3
Al-Dhalimy, M.4
Grompe, M.5
Finegold, M.6
Harding, C.O.7
-
284
-
-
82455179463
-
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU)
-
Hamman K.J., Winn S.R., Harding C.O. Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU). Mol. Genet. Metab. 2011, 104:235-240.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 235-240
-
-
Hamman, K.J.1
Winn, S.R.2
Harding, C.O.3
-
285
-
-
0028464358
-
Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer
-
Fang B., Eisensmith R.C., Li X.H., Finegold M.J., Shedlovsky A., Dove W., Woo S.L. Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. Gene Ther. 1994, 1:247-254.
-
(1994)
Gene Ther.
, vol.1
, pp. 247-254
-
-
Fang, B.1
Eisensmith, R.C.2
Li, X.H.3
Finegold, M.J.4
Shedlovsky, A.5
Dove, W.6
Woo, S.L.7
-
286
-
-
44049106551
-
Potential of AAV vectors in the treatment of metabolic disease
-
Alexander I.E., Cunningham S.C., Logan G.J., Christodoulou J. Potential of AAV vectors in the treatment of metabolic disease. Gene Ther. 2008, 15:831-839.
-
(2008)
Gene Ther.
, vol.15
, pp. 831-839
-
-
Alexander, I.E.1
Cunningham, S.C.2
Logan, G.J.3
Christodoulou, J.4
-
287
-
-
33645161455
-
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria
-
Harding C.O., Gillingham M.B., Hamman K., Clark H., Goebel-Daghighi E., Bird A., Koeberl D.D. Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. Gene Ther. 2006, 13:457-462.
-
(2006)
Gene Ther.
, vol.13
, pp. 457-462
-
-
Harding, C.O.1
Gillingham, M.B.2
Hamman, K.3
Clark, H.4
Goebel-Daghighi, E.5
Bird, A.6
Koeberl, D.D.7
-
288
-
-
33645098770
-
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer
-
Ding Z., Georgiev P., Thony B. Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer. Gene Ther. 2006, 13:587-593.
-
(2006)
Gene Ther.
, vol.13
, pp. 587-593
-
-
Ding, Z.1
Georgiev, P.2
Thony, B.3
-
289
-
-
79952644629
-
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector
-
Yagi H., Ogura T., Mizukami H., Urabe M., Hamada H., Yoshikawa H., Ozawa K., Kume A. Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector. J. Genet. Med. 2011, 13:114-122.
-
(2011)
J. Genet. Med.
, vol.13
, pp. 114-122
-
-
Yagi, H.1
Ogura, T.2
Mizukami, H.3
Urabe, M.4
Hamada, H.5
Yoshikawa, H.6
Ozawa, K.7
Kume, A.8
-
290
-
-
77950957333
-
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria
-
Rebuffat A., Harding C.O., Ding Z., Thony B. Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria. Hum. Gene Ther. 2010, 21:463-477.
-
(2010)
Hum. Gene Ther.
, vol.21
, pp. 463-477
-
-
Rebuffat, A.1
Harding, C.O.2
Ding, Z.3
Thony, B.4
-
291
-
-
84901636363
-
Liver gene therapy for PKU using naked DNA/minicircle vectors expressing phenylalanine hydroxylase from a synthetic minigene
-
Viecelli H.M., Harbottle R.P., Chuah M., VandenDriessche T., Harding C.O., Thony B. Liver gene therapy for PKU using naked DNA/minicircle vectors expressing phenylalanine hydroxylase from a synthetic minigene. Mol. Ther. 2012, 20:S56.
-
(2012)
Mol. Ther.
, vol.20
-
-
Viecelli, H.M.1
Harbottle, R.P.2
Chuah, M.3
VandenDriessche, T.4
Harding, C.O.5
Thony, B.6
-
292
-
-
41149168735
-
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system
-
Ding Z., Harding C.O., Rebuffat A., Elzaouk L., Wolff J.A., Thony B. Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Mol. Ther. 2008, 16:673-681.
-
(2008)
Mol. Ther.
, vol.16
, pp. 673-681
-
-
Ding, Z.1
Harding, C.O.2
Rebuffat, A.3
Elzaouk, L.4
Wolff, J.A.5
Thony, B.6
-
293
-
-
34548186685
-
A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria
-
Eavri R., Lorberboum-Galski H. A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria. J. Biol. Chem. 2007, 282:23402-23409.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 23402-23409
-
-
Eavri, R.1
Lorberboum-Galski, H.2
-
294
-
-
10744223043
-
Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase
-
Gamez A., Wang L., Straub M., Patch M.G., Stevens R.C. Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase. Mol. Ther. 2004, 9:124-129.
-
(2004)
Mol. Ther.
, vol.9
, pp. 124-129
-
-
Gamez, A.1
Wang, L.2
Straub, M.3
Patch, M.G.4
Stevens, R.C.5
-
295
-
-
0033514997
-
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase
-
Sarkissian C.N., Shao Z., Blain F., Peevers R., Su H., Heft R., Chang T.M., Scriver C.R. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:2339-2344.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 2339-2344
-
-
Sarkissian, C.N.1
Shao, Z.2
Blain, F.3
Peevers, R.4
Su, H.5
Heft, R.6
Chang, T.M.7
Scriver, C.R.8
-
296
-
-
21144457069
-
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria
-
Gamez A., Sarkissian C.N., Wang L., Kim W., Straub M., Patch M.G., Chen L., Striepeke S., Fitzpatrick P., Lemontt J.F., O'Neill C., Scriver C.R., Stevens R.C. Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Mol. Ther. 2005, 11:986-989.
-
(2005)
Mol. Ther.
, vol.11
, pp. 986-989
-
-
Gamez, A.1
Sarkissian, C.N.2
Wang, L.3
Kim, W.4
Straub, M.5
Patch, M.G.6
Chen, L.7
Striepeke, S.8
Fitzpatrick, P.9
Lemontt, J.F.10
O'Neill, C.11
Scriver, C.R.12
Stevens, R.C.13
-
297
-
-
58549094507
-
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria
-
Sarkissian C.N., Gamez A., Wang L., Charbonneau M., Fitzpatrick P., Lemontt J.F., Zhao B., Vellard M., Bell S.M., Henschell C., Lambert A., Tsuruda L., Stevens R.C., Scriver C.R. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:20894-20899.
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 20894-20899
-
-
Sarkissian, C.N.1
Gamez, A.2
Wang, L.3
Charbonneau, M.4
Fitzpatrick, P.5
Lemontt, J.F.6
Zhao, B.7
Vellard, M.8
Bell, S.M.9
Henschell, C.10
Lambert, A.11
Tsuruda, L.12
Stevens, R.C.13
Scriver, C.R.14
-
298
-
-
84901609567
-
Phase I trial of subcutaneous rAvPAL-PEG in subjects with phenylketonuria
-
(in press)
-
Longo N., Harding C.O., Burton B.K., Grange D.K., Vockley J., Wasserstein M., Rice G.M., Musson D.G., Gu Z., Sile S. Phase I trial of subcutaneous rAvPAL-PEG in subjects with phenylketonuria. Lancet 2014, (in press).
-
(2014)
Lancet
-
-
Longo, N.1
Harding, C.O.2
Burton, B.K.3
Grange, D.K.4
Vockley, J.5
Wasserstein, M.6
Rice, G.M.7
Musson, D.G.8
Gu, Z.9
Sile, S.10
-
299
-
-
0027504256
-
Transition from child-centered to adult health-care systems for adolescents with chronic conditions. A position paper of the Society for Adolescent Medicine
-
Blum R.W., Garell D., Hodgman C.H., Jorissen T.W., Okinow N.A., Orr D.P., Slap G.B. Transition from child-centered to adult health-care systems for adolescents with chronic conditions. A position paper of the Society for Adolescent Medicine. J. Adolesc. Health 1993, 14:570-576.
-
(1993)
J. Adolesc. Health
, vol.14
, pp. 570-576
-
-
Blum, R.W.1
Garell, D.2
Hodgman, C.H.3
Jorissen, T.W.4
Okinow, N.A.5
Orr, D.P.6
Slap, G.B.7
-
300
-
-
79959924109
-
Supporting the health care transition from adolescence to adulthood in the medical home
-
Cooley W.C., Sagerman P.J. Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics 2011, 128:182-200.
-
(2011)
Pediatrics
, vol.128
, pp. 182-200
-
-
Cooley, W.C.1
Sagerman, P.J.2
-
301
-
-
80052369952
-
Receipt of health care transition counseling in the national survey of adult transition and health
-
Sawicki G.S., Whitworth R., Gunn L., Butterfield R., Lukens-Bull K., Wood D. Receipt of health care transition counseling in the national survey of adult transition and health. Pediatrics 2011, 128:e521-e529.
-
(2011)
Pediatrics
, vol.128
-
-
Sawicki, G.S.1
Whitworth, R.2
Gunn, L.3
Butterfield, R.4
Lukens-Bull, K.5
Wood, D.6
-
302
-
-
79959765568
-
Transition from pediatric to adult health care: expectations of adolescents with chronic disorders and their parents
-
Rutishauser C., Akre C., Suris J.C. Transition from pediatric to adult health care: expectations of adolescents with chronic disorders and their parents. Eur. J. Pediatr. 2011, 170:865-871.
-
(2011)
Eur. J. Pediatr.
, vol.170
, pp. 865-871
-
-
Rutishauser, C.1
Akre, C.2
Suris, J.C.3
-
303
-
-
79959811008
-
Transition of young adults with phenylketonuria from pediatric to adult care
-
Mutze U., Roth A., Weigel J.F., Beblo S., Baerwald C.G., Buhrdel P., Kiess W. Transition of young adults with phenylketonuria from pediatric to adult care. J. Inherit. Metab. Dis. 2011, 34:701-709.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 701-709
-
-
Mutze, U.1
Roth, A.2
Weigel, J.F.3
Beblo, S.4
Baerwald, C.G.5
Buhrdel, P.6
Kiess, W.7
-
304
-
-
79960945917
-
Strategies for transitioning to adult care for youth with Lennox-Gastaut syndrome and related disorders
-
Camfield P.R., Gibson P.A., Douglass L.M. Strategies for transitioning to adult care for youth with Lennox-Gastaut syndrome and related disorders. Epilepsia 2011, 52(SUPPL. 5):21-27.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 5
, pp. 21-27
-
-
Camfield, P.R.1
Gibson, P.A.2
Douglass, L.M.3
-
305
-
-
78649651296
-
Residency training in transition of youth with childhood-onset chronic disease
-
Patel M.S., O'Hare K. Residency training in transition of youth with childhood-onset chronic disease. Pediatrics 2010, 126(SUPPL. 3):S190-S193.
-
(2010)
Pediatrics
, vol.126
, Issue.SUPPL. 3
-
-
Patel, M.S.1
O'Hare, K.2
-
306
-
-
79956321751
-
Improving the transition between paediatric and adult healthcare: a systematic review
-
Crowley R., Wolfe I., Lock K., McKee M. Improving the transition between paediatric and adult healthcare: a systematic review. Arch. Dis. Child. 2011, 96:548-553.
-
(2011)
Arch. Dis. Child.
, vol.96
, pp. 548-553
-
-
Crowley, R.1
Wolfe, I.2
Lock, K.3
McKee, M.4
-
307
-
-
84857121741
-
Utility and cost of a renal transplant transition clinic
-
Prestidge C., Romann A., Djurdjev O., Matsuda-Abedini M. Utility and cost of a renal transplant transition clinic. Pediatr. Nephrol. 2012, 27:295-302.
-
(2012)
Pediatr. Nephrol.
, vol.27
, pp. 295-302
-
-
Prestidge, C.1
Romann, A.2
Djurdjev, O.3
Matsuda-Abedini, M.4
-
308
-
-
84901625251
-
-
U.S. Congress, Orphan Drug Act, Pub. L. 97-414. 96 Stat. 2049. Amended in 1984 by Pub. L. 98-551 to add a numeric prevalence threshold to the definition of rare diseases, 1983.
-
U.S. Congress, Orphan Drug Act, Pub. L. 97-414. 96 Stat. 2049 (1983). Amended in 1984 by Pub. L. 98-551 to add a numeric prevalence threshold to the definition of rare diseases, 1983.
-
(1983)
-
-
-
309
-
-
84901609565
-
Approval of an application and an abbreviated application
-
U.S.F.a.D.A. (FDA) (Ed.), U.S.F.a.D.A.(FDA)
-
U.S.F.a.D.A.(FDA) Approval of an application and an abbreviated application. Code of Federal Regulations 2013, U.S.F.a.D.A. (FDA) (Ed.).
-
(2013)
Code of Federal Regulations
-
-
-
311
-
-
84901625252
-
-
U.S. Congress, Federal Food, Drug and Cosmetic Act (FD&C Act), Section 505(d) [21 USC §355]. New drugs. As amended through December 31,
-
U.S. Congress, Federal Food, Drug and Cosmetic Act (FD&C Act), Section 505(d) [21 USC §355]. New drugs. As amended through December 31, 2004.
-
(2004)
-
-
-
313
-
-
79952548103
-
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
-
Muntau A.C., Gersting S.W. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J. Inherit. Metab. Dis. 2010, 33:649-658.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, pp. 649-658
-
-
Muntau, A.C.1
Gersting, S.W.2
-
314
-
-
84876738455
-
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain
-
Couce M.L., Boveda M.D., Fernandez-Marmiesse A., Miras A., Perez B., Desviat L.R., Fraga J.M. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. Gene 2013, 521:100-104.
-
(2013)
Gene
, vol.521
, pp. 100-104
-
-
Couce, M.L.1
Boveda, M.D.2
Fernandez-Marmiesse, A.3
Miras, A.4
Perez, B.5
Desviat, L.R.6
Fraga, J.M.7
-
317
-
-
84901636887
-
-
F.D.A.U.S.Department of Health and Human Services
-
F.D.A.U.S.Department of Health and Human Services NDA Approval Letter, NDA 22-181 2007.
-
(2007)
NDA Approval Letter, NDA 22-181
-
-
-
318
-
-
84901631675
-
-
Vanderbilt Evidence-based Practice Center, Rockville, MD
-
McPheeters M.L., Lindgren C.M., Sathe N., Reimschisel T. Adjuvant Treatment for Phenylketonuria: Future Research Needs, Identification of Future Research Needs from Comparative Effectiveness Review No. 56 2012, Vanderbilt Evidence-based Practice Center, Rockville, MD.
-
(2012)
Adjuvant Treatment for Phenylketonuria: Future Research Needs, Identification of Future Research Needs from Comparative Effectiveness Review No. 56
-
-
McPheeters, M.L.1
Lindgren, C.M.2
Sathe, N.3
Reimschisel, T.4
-
319
-
-
0027295348
-
Mouse models of human phenylketonuria
-
Shedlovsky A., McDonald J.D., Symula D., Dove W.F. Mouse models of human phenylketonuria. Genetics 1993, 134:1205-1210.
-
(1993)
Genetics
, vol.134
, pp. 1205-1210
-
-
Shedlovsky, A.1
McDonald, J.D.2
Symula, D.3
Dove, W.F.4
-
320
-
-
0025192948
-
Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase
-
McDonald J.D., Bode V.C., Dove W.F., Shedlovsky A. Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. Proc. Natl. Acad. Sci. U. S. A. 1990, 87:1965-1967.
-
(1990)
Proc. Natl. Acad. Sci. U. S. A.
, vol.87
, pp. 1965-1967
-
-
McDonald, J.D.1
Bode, V.C.2
Dove, W.F.3
Shedlovsky, A.4
-
321
-
-
84878502615
-
White matter integrity and executive abilities in individuals with phenylketonuria
-
Antenor-Dorsey J.A., Hershey T., Rutlin J., Shimony J.S., McKinstry R.C., Grange D.K., Christ S.E., White D.A. White matter integrity and executive abilities in individuals with phenylketonuria. Mol. Genet. Metab. 2013, 109:125-131.
-
(2013)
Mol. Genet. Metab.
, vol.109
, pp. 125-131
-
-
Antenor-Dorsey, J.A.1
Hershey, T.2
Rutlin, J.3
Shimony, J.S.4
McKinstry, R.C.5
Grange, D.K.6
Christ, S.E.7
White, D.A.8
-
322
-
-
67650091998
-
Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy
-
Kreis R., Zwygart K., Boesch C., Nuoffer J.M. Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy. Magn. Reson. Med. 2009, 62:11-16.
-
(2009)
Magn. Reson. Med.
, vol.62
, pp. 11-16
-
-
Kreis, R.1
Zwygart, K.2
Boesch, C.3
Nuoffer, J.M.4
-
323
-
-
84874018848
-
Risk factors for developing mineral bone disease in phenylketonuric patients
-
Miras A., Boveda M.D., Leis M.R., Mera A., Aldamiz-Echevarria L., Fernandez-Lorenzo J.R., Fraga J.M., Couce M.L. Risk factors for developing mineral bone disease in phenylketonuric patients. Mol. Genet. Metab. 2013, 108:149-154.
-
(2013)
Mol. Genet. Metab.
, vol.108
, pp. 149-154
-
-
Miras, A.1
Boveda, M.D.2
Leis, M.R.3
Mera, A.4
Aldamiz-Echevarria, L.5
Fernandez-Lorenzo, J.R.6
Fraga, J.M.7
Couce, M.L.8
-
324
-
-
84898470326
-
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
-
Singh R.H., Rohr F., Frazier D., Cunningham A., Mofidi S., Ogata B., Splett P.L., Moseley K., Huntington K., Acosta P.B., Vockley J., Van Calcar S.C. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet. Med. 2014, 16:121-131.
-
(2014)
Genet. Med.
, vol.16
, pp. 121-131
-
-
Singh, R.H.1
Rohr, F.2
Frazier, D.3
Cunningham, A.4
Mofidi, S.5
Ogata, B.6
Splett, P.L.7
Moseley, K.8
Huntington, K.9
Acosta, P.B.10
Vockley, J.11
Van Calcar, S.C.12
-
325
-
-
84898422426
-
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
-
Vockley J., Andersson H.C., Antshel K.M., Braverman N.E., Burton B.K., Frazier D.M., Mitchell J., Smith W.E., Thompson B.H., Berry S.A. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet. Med. 2014, 16:188-200.
-
(2014)
Genet. Med.
, vol.16
, pp. 188-200
-
-
Vockley, J.1
Andersson, H.C.2
Antshel, K.M.3
Braverman, N.E.4
Burton, B.K.5
Frazier, D.M.6
Mitchell, J.7
Smith, W.E.8
Thompson, B.H.9
Berry, S.A.10
-
326
-
-
77953963057
-
Medical foods: inborn errors of metabolism and the reimbursement dilemma
-
Weaver M.A., Johnson A., Singh R.H., Wilcox W.R., Lloyd-Puryear M.A., Watson M.S. Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genet. Med. 2010, 12:364-369.
-
(2010)
Genet. Med.
, vol.12
, pp. 364-369
-
-
Weaver, M.A.1
Johnson, A.2
Singh, R.H.3
Wilcox, W.R.4
Lloyd-Puryear, M.A.5
Watson, M.S.6
-
327
-
-
73949146394
-
Medical food for treatment of inborn errors of metabolism and state legislative mandates
-
Huntington K., Buist N.R.M. Medical food for treatment of inborn errors of metabolism and state legislative mandates. Top. Clin. Nutr. 2009, 24:289-306.
-
(2009)
Top. Clin. Nutr.
, vol.24
, pp. 289-306
-
-
Huntington, K.1
Buist, N.R.M.2
-
328
-
-
79958272311
-
Examining the light and dark sides of emerging adults' identity: a study of identity status differences in positive and negative psychosocial functioning
-
Schwartz S.J., Beyers W., Luyckx K., Soenens B., Zamboanga B.L., Forthun L.F., Hardy S.A., Vazsonyi A.T., Ham L.S., Kim S.Y., Whitbourne S.K., Waterman A.S. Examining the light and dark sides of emerging adults' identity: a study of identity status differences in positive and negative psychosocial functioning. J. Youth Adolesc. 2011, 40:839-859.
-
(2011)
J. Youth Adolesc.
, vol.40
, pp. 839-859
-
-
Schwartz, S.J.1
Beyers, W.2
Luyckx, K.3
Soenens, B.4
Zamboanga, B.L.5
Forthun, L.F.6
Hardy, S.A.7
Vazsonyi, A.T.8
Ham, L.S.9
Kim, S.Y.10
Whitbourne, S.K.11
Waterman, A.S.12
-
329
-
-
84856228820
-
Optimising growth in phenylketonuria: current state of the clinical evidence base
-
Dokoupil K., Gokmen-Ozel H., Lammardo A.M., Motzfeldt K., Robert M., Rocha J.C., van Rijn M., Ahring K., Belanger-Quintana A., Macdonald A. Optimising growth in phenylketonuria: current state of the clinical evidence base. Clin. Nutr. 2012, 31:16-21.
-
(2012)
Clin. Nutr.
, vol.31
, pp. 16-21
-
-
Dokoupil, K.1
Gokmen-Ozel, H.2
Lammardo, A.M.3
Motzfeldt, K.4
Robert, M.5
Rocha, J.C.6
van Rijn, M.7
Ahring, K.8
Belanger-Quintana, A.9
Macdonald, A.10
-
330
-
-
82855165078
-
Nutrition in phenylketonuria
-
MacDonald A., Rocha J.C., van Rijn M., Feillet F. Nutrition in phenylketonuria. Mol. Genet. Metab. 2011, 104:S10-S18. (SUPPL.).
-
(2011)
Mol. Genet. Metab.
, vol.104
, Issue.SUPPL.
-
-
MacDonald, A.1
Rocha, J.C.2
van Rijn, M.3
Feillet, F.4
-
331
-
-
84878858084
-
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
-
N.Canadian Inherited Metabolic Diseases Research
-
Potter B.K., Chakraborty P., Kronick J.B., Wilson K., Coyle D., Feigenbaum A., Geraghty M.T., Karaceper M.D., Little J., Mhanni A., Mitchell J.J., Siriwardena K., Wilson B.J., Syrowatka A., N.Canadian Inherited Metabolic Diseases Research Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet. Med 2013, 15:415-422.
-
(2013)
Genet. Med
, vol.15
, pp. 415-422
-
-
Potter, B.K.1
Chakraborty, P.2
Kronick, J.B.3
Wilson, K.4
Coyle, D.5
Feigenbaum, A.6
Geraghty, M.T.7
Karaceper, M.D.8
Little, J.9
Mhanni, A.10
Mitchell, J.J.11
Siriwardena, K.12
Wilson, B.J.13
Syrowatka, A.14
-
332
-
-
0021981895
-
On the mechanism of action of phenylalanine hydroxylase
-
Benkovic S., Wallick D., Bloom L., Gaffney B.J., Domanico P., Dix T., Pember S. On the mechanism of action of phenylalanine hydroxylase. Biochem. Soc. Trans. 1985, 13:436-438.
-
(1985)
Biochem. Soc. Trans.
, vol.13
, pp. 436-438
-
-
Benkovic, S.1
Wallick, D.2
Bloom, L.3
Gaffney, B.J.4
Domanico, P.5
Dix, T.6
Pember, S.7
-
333
-
-
0029786950
-
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
-
Guttler F., Guldberg P. The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency. Eur. J. Pediatr. 1996, 155(SUPPL. 1):S6-S10.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Guttler, F.1
Guldberg, P.2
-
334
-
-
0021932927
-
Normal plasma free amino acid values in adults: the influence of some common physiological variables
-
Scriver C.R., Gregory D.M., Sovetts D., Tissenbaum G. Normal plasma free amino acid values in adults: the influence of some common physiological variables. Metabolism 1985, 34:868-873.
-
(1985)
Metabolism
, vol.34
, pp. 868-873
-
-
Scriver, C.R.1
Gregory, D.M.2
Sovetts, D.3
Tissenbaum, G.4
-
336
-
-
0031648856
-
Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24hours
-
Chace D.H., Sherwin J.E., Hillman S.L., Lorey F., Cunningham G.C. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24hours. Clin. Chem. 1998, 44:2405-2409.
-
(1998)
Clin. Chem.
, vol.44
, pp. 2405-2409
-
-
Chace, D.H.1
Sherwin, J.E.2
Hillman, S.L.3
Lorey, F.4
Cunningham, G.C.5
-
337
-
-
79952194543
-
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
-
McHugh D., Cameron C.A., Abdenur J.E., Abdulrahman M., Adair O., Al Nuaimi S.A., Ahlman H., Allen J.J., Antonozzi I., Archer S., Au S., Auray-Blais C., Baker M., Bamforth F., Beckmann K., Pino G.B., Berberich S.L., Binard R., Boemer F., Bonham J., Breen N.N., Bryant S.C., Caggana M., Caldwell S.G., Camilot M., Campbell C., Carducci C., Bryant S.C., Caggana M., Caldwell S.G., Camilot M., Campbell C., Carducci C., Cariappa R., Carlisle C., Caruso U., Cassanello M., Castilla A.M., Ramos D.E., Chakraborty P., Chandrasekar R., Ramos A.C., Cheillan D., Chien Y.H., Childs T.A., Chrastina P., Sica Y.C., de Juan J.A., Colandre M.E., Espinoza V.C., Corso G., Currier R., Cyr D., Czuczy N., D'Apolito O., Davis T., de Sain-Van der Velden M.G., Delgado Pecellin C., Di Gangi I.M., Di Stefano C.M., Dotsikas Y., Downing M., Downs S.M., Dy B., Dymerski M., Rueda I., Elvers B., Eaton R., Eckerd B.M., El Mougy F., Eroh S., Espada M., Evans C., Fawbush S., Fijolek K.F., Fisher L., Franzson L., Frazier D.M., Garcia L.R., Bermejo M.S., Gavrilov D., Gerace R., Giordano G., Irazabal Y.G., Greed L.C., Grier R., Grycki E., Gu X., Gulamali-Majid F., Hagar A.F., Han L., Hannon W.H., Haslip C., Hassan F.A., He M., Hietala A., Himstedt L., Hoffman G.L., Hoffman W., Hoggatt P., Hopkins P.V., Hougaard D.M., Hughes K., Hunt P.R., Hwu W.L., Hynes J., Ibarra-Gonzalez I., Ingham C.A., Ivanova M., Jacox W.B., John C., Johnson J.P., Jonsson J.J., Karg E., Kasper D., Klopper B., Katakouzinos D., Khneisser I., Knoll D., Kobayashi H., Koneski R., Kozich V., Kouapei R., Kohlmueller D., Kremensky I., la Marca G., Lavochkin M., Lee S.Y., Lehotay D.C., Lemes A., Lepage J., Lesko B., Lewis B., Lim C., Linard S., Lindner M., Lloyd-Puryear M.A., Lorey F., Loukas Y.L., Luedtke J., Maffitt N., Magee J.F., Manning A., Manos S., Marie S., Hadachi S.M., Marquardt G., Martin S.J., Matern D., Mayfield Gibson S.K., Mayne P., McCallister T.D., McCann M., McClure J., McGill J.J., McKeever C.D., McNeilly B., Morrissey M.A., Moutsatsou P., Mulcahy E.A., Nikoloudis D., Norgaard-Pedersen B., Oglesbee D., Oltarzewski M., Ombrone D., Ojodu J., Papakonstantinou V., Reoyo S.P., Park H.D., Pasquali M., Pasquini E., Patel P., Pass K.A., Peterson C., Pettersen R.D., Pitt J.J., Poh S., Pollak A., Porter C., Poston P.A., Price R.W., Queijo C., Quesada J., Randell E., Ranieri E., Raymond K., Reddic J.E., Reuben A., Ricciardi C., Rinaldo P., Rivera J.D., Roberts A., Rocha H., Roche G., Greenberg C.R., Mellado J.M., Juan-Fita M.J., Ruiz C., Ruoppolo M., Rutledge S.L., Ryu E., Saban C., Sahai I., Garcia-Blanco M.I., Santiago-Borrero P., Schenone A., Schoos R., Schweitzer B., Scott P., Seashore M.R., Seeterlin M.A., Sesser D.E., Sevier D.W., Shone S.M., Sinclair G., Skrinska V.A., Stanley E.L., Strovel E.T., Jones A.L., Sunny S., Takats Z., Tanyalcin T., Teofoli F., Thompson J.R., Tomashitis K., Domingos M.T., Torres J., Torres R., Tortorelli S., Turi S., Turner K., Tzanakos N., Valiente A.G., Vallance H., Vela-Amieva M., Vilarinho L., von Dobeln U., Vincent M.F., Vorster B.C., Watson M.S., Webster D., Weiss S., Wilcken B., Wiley V., Williams S.K., Willis S.A., Woontner M., Wright K., Yahyaoui R., Yamaguchi S., Yssel M., Zakowicz W.M. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet. Med. 2011, 13:230-254.
-
(2011)
Genet. Med.
, vol.13
, pp. 230-254
-
-
McHugh, D.1
Cameron, C.A.2
Abdenur, J.E.3
Abdulrahman, M.4
Adair, O.5
Al Nuaimi, S.A.6
Ahlman, H.7
Allen, J.J.8
Antonozzi, I.9
Archer, S.10
Au, S.11
Auray-Blais, C.12
Baker, M.13
Bamforth, F.14
Beckmann, K.15
Pino, G.B.16
Berberich, S.L.17
Binard, R.18
Boemer, F.19
Bonham, J.20
Breen, N.N.21
Bryant, S.C.22
Caggana, M.23
Caldwell, S.G.24
Camilot, M.25
Campbell, C.26
Carducci, C.27
Bryant, S.C.28
Caggana, M.29
Caldwell, S.G.30
Camilot, M.31
Campbell, C.32
Carducci, C.33
Cariappa, R.34
Carlisle, C.35
Caruso, U.36
Cassanello, M.37
Castilla, A.M.38
Ramos, D.E.39
Chakraborty, P.40
Chandrasekar, R.41
Ramos, A.C.42
Cheillan, D.43
Chien, Y.H.44
Childs, T.A.45
Chrastina, P.46
Sica, Y.C.47
de Juan, J.A.48
Colandre, M.E.49
Espinoza, V.C.50
Corso, G.51
Currier, R.52
Cyr, D.53
Czuczy, N.54
D'Apolito, O.55
Davis, T.56
de Sain-Van der Velden, M.G.57
Delgado Pecellin, C.58
Di Gangi, I.M.59
Di Stefano, C.M.60
Dotsikas, Y.61
Downing, M.62
Downs, S.M.63
Dy, B.64
Dymerski, M.65
Rueda, I.66
Elvers, B.67
Eaton, R.68
Eckerd, B.M.69
El Mougy, F.70
Eroh, S.71
Espada, M.72
Evans, C.73
Fawbush, S.74
Fijolek, K.F.75
Fisher, L.76
Franzson, L.77
Frazier, D.M.78
Garcia, L.R.79
Bermejo, M.S.80
Gavrilov, D.81
Gerace, R.82
Giordano, G.83
Irazabal, Y.G.84
Greed, L.C.85
Grier, R.86
Grycki, E.87
Gu, X.88
Gulamali-Majid, F.89
Hagar, A.F.90
Han, L.91
Hannon, W.H.92
Haslip, C.93
Hassan, F.A.94
He, M.95
Hietala, A.96
Himstedt, L.97
Hoffman, G.L.98
Hoffman, W.99
more..
-
338
-
-
84861333955
-
Enhanced interpretation of newborn screening results without analyte cutoff values
-
Marquardt G., Currier R., McHugh D.M., Gavrilov D., Magera M.J., Matern D., Oglesbee D., Raymond K., Rinaldo P., Smith E.H., Tortorelli S., Turgeon C.T., Lorey F., Wilcken B., Wiley V., Greed L.C., Lewis B., Boemer F., Schoos R., Marie S., Vincent M.F., Sica Y.C., Domingos M.T., Al-Thihli K., Sinclair G., Al-Dirbashi O.Y., Chakraborty P., Dymerski M., Porter C., Manning A., Seashore M.R., Quesada J., Reuben A., Chrastina P., Hornik P., Atef Mandour I., Atty Sharaf S.A., Bodamer O., Dy B., Torres J., Zori R., Cheillan D., Vianey-Saban C., Ludvigson D., Stembridge A., Bonham J., Downing M., Dotsikas Y., Loukas Y.L., Papakonstantinou V., Zacharioudakis G.S., Barath A., Karg E., Franzson L., Jonsson J.J., Breen N.N., Lesko B.G., Berberich S.L., Turner K., Ruoppolo M., Scolamiero E., Antonozzi I., Carducci C., Caruso U., Cassanello M., la Marca G., Pasquini E., Di Gangi I.M., Giordano G., Camilot M., Teofoli F., Manos S.M., Peterson C.K., Mayfield Gibson S.K., Sevier D.W., Lee S.Y., Park H.D., Khneisser I., Browning P., Gulamali-Majid F., Watson M.S., Eaton R.B., Sahai I., Ruiz C., Torres R., Seeterlin M.A., Stanley E.L., Hietala A., McCann M., Campbell C., Hopkins P.V., de Sain-Van der Velden M.G., Elvers B., Morrissey M.A., Sunny S., Knoll D., Webster D., Frazier D.M., McClure J.D., Sesser D.E., Willis S.A., Rocha H., Vilarinho L., John C., Lim J., Caldwell S.G., Tomashitis K., Castineiras Ramos D.E., Cocho de Juan J.A., Rueda Fernandez I., Yahyaoui Macias R., Egea-Mellado J.M., Gonzalez-Gallego I., Delgado Pecellin C., Garcia-Valdecasas Bermejo M.S., Chien Y.H., Hwu W.L., Childs T., McKeever C.D., Tanyalcin T., Abdulrahman M., Queijo C., Lemes A., Davis T., Hoffman W., Baker M., Hoffman G.L. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet. Med. 2012, 14:648-655.
-
(2012)
Genet. Med.
, vol.14
, pp. 648-655
-
-
Marquardt, G.1
Currier, R.2
McHugh, D.M.3
Gavrilov, D.4
Magera, M.J.5
Matern, D.6
Oglesbee, D.7
Raymond, K.8
Rinaldo, P.9
Smith, E.H.10
Tortorelli, S.11
Turgeon, C.T.12
Lorey, F.13
Wilcken, B.14
Wiley, V.15
Greed, L.C.16
Lewis, B.17
Boemer, F.18
Schoos, R.19
Marie, S.20
Vincent, M.F.21
Sica, Y.C.22
Domingos, M.T.23
Al-Thihli, K.24
Sinclair, G.25
Al-Dirbashi, O.Y.26
Chakraborty, P.27
Dymerski, M.28
Porter, C.29
Manning, A.30
Seashore, M.R.31
Quesada, J.32
Reuben, A.33
Chrastina, P.34
Hornik, P.35
Atef Mandour, I.36
Atty Sharaf, S.A.37
Bodamer, O.38
Dy, B.39
Torres, J.40
Zori, R.41
Cheillan, D.42
Vianey-Saban, C.43
Ludvigson, D.44
Stembridge, A.45
Bonham, J.46
Downing, M.47
Dotsikas, Y.48
Loukas, Y.L.49
Papakonstantinou, V.50
Zacharioudakis, G.S.51
Barath, A.52
Karg, E.53
Franzson, L.54
Jonsson, J.J.55
Breen, N.N.56
Lesko, B.G.57
Berberich, S.L.58
Turner, K.59
Ruoppolo, M.60
Scolamiero, E.61
Antonozzi, I.62
Carducci, C.63
Caruso, U.64
Cassanello, M.65
la Marca, G.66
Pasquini, E.67
Di Gangi, I.M.68
Giordano, G.69
Camilot, M.70
Teofoli, F.71
Manos, S.M.72
Peterson, C.K.73
Mayfield Gibson, S.K.74
Sevier, D.W.75
Lee, S.Y.76
Park, H.D.77
Khneisser, I.78
Browning, P.79
Gulamali-Majid, F.80
Watson, M.S.81
Eaton, R.B.82
Sahai, I.83
Ruiz, C.84
Torres, R.85
Seeterlin, M.A.86
Stanley, E.L.87
Hietala, A.88
McCann, M.89
Campbell, C.90
Hopkins, P.V.91
de Sain-Van der Velden, M.G.92
Elvers, B.93
Morrissey, M.A.94
Sunny, S.95
Knoll, D.96
Webster, D.97
Frazier, D.M.98
McClure, J.D.99
more..
-
339
-
-
0003723791
-
-
Ross Laboratories, Inc., Columbus, OH
-
Acosta P.B., Yannicelli S., Sproat K.V. Ross Metabolic Formula System: Nutrition Support Protocols 1997, Ross Laboratories, Inc., Columbus, OH. 3rd edition.
-
(1997)
Ross Metabolic Formula System: Nutrition Support Protocols
-
-
Acosta, P.B.1
Yannicelli, S.2
Sproat, K.V.3
-
340
-
-
77954231674
-
Nutrition management of patients with inherited metabolic disorders of aromatic amino acid metabolism
-
Jones and Bartlett, Sudbury, MA, P.B. Acosta (Ed.)
-
Acosta P.B. Nutrition management of patients with inherited metabolic disorders of aromatic amino acid metabolism. Nutrition Management of Patients with Inherited Metabolic Disorders 2010, 126-129. Jones and Bartlett, Sudbury, MA. P.B. Acosta (Ed.).
-
(2010)
Nutrition Management of Patients with Inherited Metabolic Disorders
, pp. 126-129
-
-
Acosta, P.B.1
-
341
-
-
0036928279
-
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002
-
Bernegger C., Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol. Genet. Metab. 2002, 77:304-313.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 304-313
-
-
Bernegger, C.1
Blau, N.2
|