-
1
-
-
0000134296
-
Hyperphenylalaninemia: phenylalanine hydroxylase deficiency
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.)
-
Scriver C.R., Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. The Metabolic and Molecular Bases of Inherited Disease 2001, 1667-1724. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
3
-
-
0037031064
-
How practical are recommendations for dietary control in phenylketonuria?
-
Walter J.H., White F.J., Hall S.K., MacDonald A., Rylance G., Boneh A., Francis D.E., Shortland G.J., Schmidt M., Vail A. How practical are recommendations for dietary control in phenylketonuria?. Lancet 2002, 360:55-57.
-
(2002)
Lancet
, vol.360
, pp. 55-57
-
-
Walter, J.H.1
White, F.J.2
Hall, S.K.3
MacDonald, A.4
Rylance, G.5
Boneh, A.6
Francis, D.E.7
Shortland, G.J.8
Schmidt, M.9
Vail, A.10
-
4
-
-
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
-
5
-
-
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
-
6
-
-
28844501717
-
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience
-
Mitchell J.J., Wilcken B., Alexander I., Ellaway C., O'Grady H., Wiley V., Earl J., Christodoulou J. Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. Mol. Genet. Metab. 2005, 86(Suppl. 1):S81-S85.
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Mitchell, J.J.1
Wilcken, B.2
Alexander, I.3
Ellaway, C.4
O'Grady, H.5
Wiley, V.6
Earl, J.7
Christodoulou, J.8
-
7
-
-
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
-
8
-
-
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
-
9
-
-
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
-
10
-
-
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
-
11
-
-
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
-
13
-
-
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
-
14
-
-
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
-
15
-
-
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
-
16
-
-
79954582736
-
Neurocognitive function in mild hyperphenylalaninemia
-
Campistol J., Gassio R., Artuch R., Vilaseca M.A. Neurocognitive function in mild hyperphenylalaninemia. Dev. Med. Child Neurol. 2011, 53:405-408.
-
(2011)
Dev. Med. Child Neurol.
, vol.53
, pp. 405-408
-
-
Campistol, J.1
Gassio, R.2
Artuch, R.3
Vilaseca, M.A.4
-
17
-
-
79951580009
-
Tetrahydrobiopterin and PKU: into the future
-
Cederbaum S. Tetrahydrobiopterin and PKU: into the future. J. Pediatr. 2011, 158:351-353.
-
(2011)
J. Pediatr.
, vol.158
, pp. 351-353
-
-
Cederbaum, S.1
-
18
-
-
0036028026
-
Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations
-
Huijbregts S.C., de Sonneville L.M., Licht R., van Spronsen F.J., Verkerk P.H., Sergeant J.A. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations. Neuropsychologia 2002, 40:7-15.
-
(2002)
Neuropsychologia
, vol.40
, pp. 7-15
-
-
Huijbregts, S.C.1
de Sonneville, L.M.2
Licht, R.3
van Spronsen, F.J.4
Verkerk, P.H.5
Sergeant, J.A.6
-
19
-
-
0036965652
-
Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria
-
Huijbregts S., de Sonneville L., Licht R., Sergeant J., van Spronsen F. Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria. Dev. Neuropsychol. 2002, 22:481-499.
-
(2002)
Dev. Neuropsychol.
, vol.22
, pp. 481-499
-
-
Huijbregts, S.1
de Sonneville, L.2
Licht, R.3
Sergeant, J.4
van Spronsen, F.5
-
20
-
-
0031018037
-
Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study
-
Burgard P., Rey F., Rupp A., Abadie V., Rey J. Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study. Pediatr. Res. 1997, 41:368-374.
-
(1997)
Pediatr. Res.
, vol.41
, pp. 368-374
-
-
Burgard, P.1
Rey, F.2
Rupp, A.3
Abadie, V.4
Rey, J.5
-
21
-
-
79961171491
-
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria
-
Viau K.S., Wengreen H.J., Ernst S.L., Cantor N.L., Furtado L.V., Longo N. Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria. J. Inherit. Metab. Dis. 2011, 34:963-971.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 963-971
-
-
Viau, K.S.1
Wengreen, H.J.2
Ernst, S.L.3
Cantor, N.L.4
Furtado, L.V.5
Longo, N.6
-
22
-
-
79955689670
-
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time
-
Dawson C., Murphy E., Maritz C., Chan H., Ellerton C., Carpenter R.H., Lachmann R.H. Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time. J. Inherit. Metab. Dis. 2011, 34:449-454.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 449-454
-
-
Dawson, C.1
Murphy, E.2
Maritz, C.3
Chan, H.4
Ellerton, C.5
Carpenter, R.H.6
Lachmann, R.H.7
-
23
-
-
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
-
24
-
-
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
-
25
-
-
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
-
27
-
-
84862568891
-
Safety and efficacy of sapropterin in children aged 0 to 6years with phenylketonuria
-
Longo N., Burton B., Dimmock D., Feigenbaum A., Potter M., Stockler S., Siriwardena K., Lang W., Kim S., Jurecki E., Prasad S. Safety and efficacy of sapropterin in children aged 0 to 6years with phenylketonuria. Preliminary Findings from a Long Term Open Label Study, 2012 American College of Medical Genetics Annual Clinical Genetics Meeting, Charlotte, North Carolina 2012.
-
(2012)
Preliminary Findings from a Long Term Open Label Study, 2012 American College of Medical Genetics Annual Clinical Genetics Meeting, Charlotte, North Carolina
-
-
Longo, N.1
Burton, B.2
Dimmock, D.3
Feigenbaum, A.4
Potter, M.5
Stockler, S.6
Siriwardena, K.7
Lang, W.8
Kim, S.9
Jurecki, E.10
Prasad, S.11
-
28
-
-
58249093611
-
Maternal phenylketonuria and tetrahydrobiopterin
-
Koch R. Maternal phenylketonuria and tetrahydrobiopterin. Pediatrics 2008, 122:1367-1368.
-
(2008)
Pediatrics
, vol.122
, pp. 1367-1368
-
-
Koch, R.1
-
29
-
-
84998183219
-
Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies
-
Moseley K., Skrabal J., Yano S., Koch R. Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies. Infant Child Adolesc. Nutr. 2009, 1:262-266.
-
(2009)
Infant Child Adolesc. Nutr.
, vol.1
, pp. 262-266
-
-
Moseley, K.1
Skrabal, J.2
Yano, S.3
Koch, R.4
-
30
-
-
72249092404
-
Maternal phenylketonuria and tetrahydrobiopterin
-
Koch R., Moseley K.D. Maternal phenylketonuria and tetrahydrobiopterin. Mol. Genet. Metab. 2009, 98:37.
-
(2009)
Mol. Genet. Metab.
, vol.98
, pp. 37
-
-
Koch, R.1
Moseley, K.D.2
-
31
-
-
72249118533
-
PKU treatment with tetrahydrobiopterin (sapropterin) during pregnancy
-
Cunningham A., Pridjian G., Smith J., Andersson H.C. PKU treatment with tetrahydrobiopterin (sapropterin) during pregnancy. Mol. Genet. Metab. 2009, 98:24.
-
(2009)
Mol. Genet. Metab.
, vol.98
, pp. 24
-
-
Cunningham, A.1
Pridjian, G.2
Smith, J.3
Andersson, H.C.4
-
32
-
-
79951576010
-
-
BioMarin Pharmaceutical Inc., Novato, CA, Available at
-
KUVAN® US Prescribing Information 2007, BioMarin Pharmaceutical Inc., Novato, CA, Available at www.kuvan.com.
-
(2007)
KUVAN® US Prescribing Information
-
-
-
33
-
-
0346124136
-
The maternal phenylketonuria international study: 1984-2002
-
Koch R., Hanley W., Levy H., Matalon K., Matalon R., Rouse B., Trefz F., Güttler 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
Güttler, 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
-
34
-
-
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
-
35
-
-
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
-
36
-
-
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
-
37
-
-
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
-
38
-
-
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
-
39
-
-
84862585492
-
Pilot study to evaluate the effects of Kuvan on adult individuals with phenylketonuria with measurable maladaptive behaviors
-
Moseley K.D., Azen C., Ottina M.J., Koch R., Yano S. Pilot study to evaluate the effects of Kuvan on adult individuals with phenylketonuria with measurable maladaptive behaviors. J. Inherit. Metab. Dis. 2010, 33:S116.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
-
-
Moseley, K.D.1
Azen, C.2
Ottina, M.J.3
Koch, R.4
Yano, S.5
-
40
-
-
0022003626
-
The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects
-
Aman M.G., Singh N.N., Stewart A.W., Field C.J. The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects. Am. J. Ment. Defic. 1985, 89:485-491.
-
(1985)
Am. J. Ment. Defic.
, vol.89
, pp. 485-491
-
-
Aman, M.G.1
Singh, N.N.2
Stewart, A.W.3
Field, C.J.4
-
41
-
-
3142628093
-
Food-frequency questionnaires: a review of their design, validation and utilisation
-
Cade J.E., Burley V.J., Warm D.L., Thompson R.L., Margetts B.M. Food-frequency questionnaires: a review of their design, validation and utilisation. Nutr. Res. Rev. 2004, 17:5-22.
-
(2004)
Nutr. Res. Rev.
, vol.17
, pp. 5-22
-
-
Cade, J.E.1
Burley, V.J.2
Warm, D.L.3
Thompson, R.L.4
Margetts, B.M.5
-
42
-
-
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
-
43
-
-
0003905405
-
-
Psychological Assessment Resources, Lutz, Florida
-
Gioia G.A., Isquith P.K., Guy S., Kenworthy L. Behavior Rating Inventory of Executive Function (BRIEF) 2000, Psychological Assessment Resources, Lutz, Florida.
-
(2000)
Behavior Rating Inventory of Executive Function (BRIEF)
-
-
Gioia, G.A.1
Isquith, P.K.2
Guy, S.3
Kenworthy, L.4
-
44
-
-
0033035728
-
Use of the Pediatric Symptom Checklist to screen for psychosocial problems in pediatric primary care: a national feasibility study
-
Jellinek M.S., Murphy J.M., Little M., Pagano M.E., Comer D.M., Kelleher K.J. Use of the Pediatric Symptom Checklist to screen for psychosocial problems in pediatric primary care: a national feasibility study. Arch. Pediatr. Adolesc. Med. 1999, 153:254-260.
-
(1999)
Arch. Pediatr. Adolesc. Med.
, vol.153
, pp. 254-260
-
-
Jellinek, M.S.1
Murphy, J.M.2
Little, M.3
Pagano, M.E.4
Comer, D.M.5
Kelleher, K.J.6
-
45
-
-
84860262827
-
Utility of the Brief Symptom Inventory (BSI) in psychiatric outpatients with intellectual disabilities
-
Wieland J., Wardenaar K.J., Fontein E., Zitman F.G. Utility of the Brief Symptom Inventory (BSI) in psychiatric outpatients with intellectual disabilities. J. Intellect. Disabil. Res. 2011, 1-11.
-
(2011)
J. Intellect. Disabil. Res.
, pp. 1-11
-
-
Wieland, J.1
Wardenaar, K.J.2
Fontein, E.3
Zitman, F.G.4
-
46
-
-
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:S96-S99.
-
(2010)
Mol. Genet. Metab.
, vol.99
-
-
Waisbren, S.1
White, D.A.2
-
47
-
-
84862509242
-
Mental health screening in the phenylketonuria (PKU) clinic
-
Leviton L., Vespa H., Burton B.K. Mental health screening in the phenylketonuria (PKU) clinic. 2011 American College of Medical Genetics Annual Clinical Genetics Meeting, Vancouver, British Columbia, Canada 2011.
-
(2011)
2011 American College of Medical Genetics Annual Clinical Genetics Meeting, Vancouver, British Columbia, Canada
-
-
Leviton, L.1
Vespa, H.2
Burton, B.K.3
-
48
-
-
0036830284
-
Which weight for weight-based dosage regimens in obese patients?
-
Erstad B.L. Which weight for weight-based dosage regimens in obese patients?. Am. J. Health Syst. Pharm. 2002, 59:2105-2110.
-
(2002)
Am. J. Health Syst. Pharm.
, vol.59
, pp. 2105-2110
-
-
Erstad, B.L.1
-
49
-
-
79953699079
-
Adult patients with well-controlled phenylketonuria tolerate incidental additional intake of phenylalanine
-
van Rijn M., Hoeksma M., Sauer P.J., Modderman P., Reijngoud D.J., van Spronsen F.J. Adult patients with well-controlled phenylketonuria tolerate incidental additional intake of phenylalanine. Ann. Nutr. Metab. 2011, 58:94-100.
-
(2011)
Ann. Nutr. Metab.
, vol.58
, pp. 94-100
-
-
van Rijn, M.1
Hoeksma, M.2
Sauer, P.J.3
Modderman, P.4
Reijngoud, D.J.5
van Spronsen, F.J.6
-
52
-
-
84863393087
-
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients
-
Gordon P., Thomas J.A., Suter R., Jurecki E. Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients. Mol. Genet. Metab. 2012, 105:672-676.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 672-676
-
-
Gordon, P.1
Thomas, J.A.2
Suter, R.3
Jurecki, E.4
-
53
-
-
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
-
54
-
-
84862562117
-
Neurocognitive findings in individuals with phenylketonuria and treatment with sapropterin dihydrochloride (BH4)
-
White D.A., Grange D.K., Christ S.E. Neurocognitive findings in individuals with phenylketonuria and treatment with sapropterin dihydrochloride (BH4). J. Inherit. Metab. Dis. 2010, 33:S112.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
-
-
White, D.A.1
Grange, D.K.2
Christ, S.E.3
-
55
-
-
84862537579
-
Brain function in individuals with PKU treated with Kuvan: evidence from functional magnetic resonance imaging
-
Christ S.E., Peck D., Moffitt A., Hillman R. Brain function in individuals with PKU treated with Kuvan: evidence from functional magnetic resonance imaging. J. Inherit. Metab. Dis. 2010, 33:S111.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
-
-
Christ, S.E.1
Peck, D.2
Moffitt, A.3
Hillman, R.4
-
57
-
-
84862568959
-
Baseline findings in the first 60 subjects in PKU-016: a double-blind, placebo-controlled, randomized study to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with phenylketonuria (PKU)
-
Prasad S., Burton B., Feigenbaum A., Grant M., Hendren R., Mardach R., Phillips J., Sanchez-Valle A., Singh R., Siriwardena K., Thomas J., Stahl S., Lang W., Kim S., Jurecki E. Baseline findings in the first 60 subjects in PKU-016: a double-blind, placebo-controlled, randomized study to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with phenylketonuria (PKU). 2012 American College of Medical Genetics Annual Clinical Genetics Meeting, Charlotte, North Carolina 2012.
-
(2012)
2012 American College of Medical Genetics Annual Clinical Genetics Meeting, Charlotte, North Carolina
-
-
Prasad, S.1
Burton, B.2
Feigenbaum, A.3
Grant, M.4
Hendren, R.5
Mardach, R.6
Phillips, J.7
Sanchez-Valle, A.8
Singh, R.9
Siriwardena, K.10
Thomas, J.11
Stahl, S.12
Lang, W.13
Kim, S.14
Jurecki, E.15
-
59
-
-
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
-
60
-
-
77957233995
-
Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
-
Burton B.K., Bausell H., Katz R., Laduca H., Sullivan C. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU). Mol. Genet. Metab. 2010, 101:110-114.
-
(2010)
Mol. Genet. Metab.
, vol.101
, pp. 110-114
-
-
Burton, B.K.1
Bausell, H.2
Katz, R.3
Laduca, H.4
Sullivan, C.5
-
61
-
-
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
-
62
-
-
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
|