-
1
-
-
0000134296
-
Hyperphenylalaninemia: phenylalanine hydroxylase deficiency
-
Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds), McGraw-Hill, New York
-
Scriver C.R., and Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1667-1724
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
4
-
-
0000386847
-
The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria)
-
Paine R.S. The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria). Pediatrics 20 (1957) 290-302
-
(1957)
Pediatrics
, vol.20
, pp. 290-302
-
-
Paine, R.S.1
-
5
-
-
0033835893
-
The neuropathology of phenylketonuria: human and animal studies
-
Huttenlocher P.R. The neuropathology of phenylketonuria: human and animal studies. Eur. J. Pediatr. 159 (2000) S102-S106
-
(2000)
Eur. J. Pediatr.
, vol.159
-
-
Huttenlocher, P.R.1
-
6
-
-
34250023212
-
Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU
-
Moyle J.J., Fox A.M., Arthur M., Bynevelt M., and Burnett J.R. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol. Rev. 17 (2007) 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
-
7
-
-
4644265213
-
Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: a preliminary review
-
Brumm V.L., Azen C., Moats R., Stern A., Broomand C., and Nelson M. Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: a preliminary review. J. Inherit. Metab. Dis. 27 (2004) 549-566
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 549-566
-
-
Brumm, V.L.1
Azen, C.2
Moats, R.3
Stern, A.4
Broomand, C.5
Nelson, M.6
-
8
-
-
0033827010
-
The neurochemistry of phenylketonuria
-
Surtees R., and Blau N. The neurochemistry of phenylketonuria. Eur. J. Pediatr. 159 (2000) S109-S113
-
(2000)
Eur. J. Pediatr.
, vol.159
-
-
Surtees, R.1
Blau, N.2
-
9
-
-
67649535597
-
Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion
-
Scarabino T., Popolizio T., Tosetti M., Montanaro D., Giannatempo G.M., Terlizzi R., Pollice S., Maiorana A., Maggialetti N., Carriero A., Leuzzi V., and Salvolini U. Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion. Radiol. Med. 114 (2009) 461-474
-
(2009)
Radiol. Med.
, vol.114
, pp. 461-474
-
-
Scarabino, T.1
Popolizio, T.2
Tosetti, M.3
Montanaro, D.4
Giannatempo, G.M.5
Terlizzi, R.6
Pollice, S.7
Maiorana, A.8
Maggialetti, N.9
Carriero, A.10
Leuzzi, V.11
Salvolini, U.12
-
10
-
-
0029124950
-
Visual evoked potentials in phenylketonuria: association with brain MRI, dietary state, and IQ
-
Jones S.J., Turano G., Kriss A., Shawkat F., Kendall B., and Thompson A.J. Visual evoked potentials in phenylketonuria: association with brain MRI, dietary state, and IQ. J. Neurol. Neurosurg. Psychiatry 59 (1995) 260-265
-
(1995)
J. Neurol. Neurosurg. Psychiatry
, vol.59
, pp. 260-265
-
-
Jones, S.J.1
Turano, G.2
Kriss, A.3
Shawkat, F.4
Kendall, B.5
Thompson, A.J.6
-
11
-
-
0022496925
-
Neutral amino acid transport at the human blood-brain barrier
-
Pardridge W.M., and Choi T.B. Neutral amino acid transport at the human blood-brain barrier. Fed. Proc. 45 (1986) 2073-2078
-
(1986)
Fed. Proc.
, vol.45
, pp. 2073-2078
-
-
Pardridge, W.M.1
Choi, T.B.2
-
12
-
-
0023021880
-
Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behavior and neuropsychological function
-
Guttler F., and Lou H. Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behavior and neuropsychological function. J. Inherit. Metab. Dis. 9 (1986) 347-353
-
(1986)
J. Inherit. Metab. Dis.
, vol.9
, pp. 347-353
-
-
Guttler, F.1
Lou, H.2
-
13
-
-
0021990680
-
Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria: a model for the study of phenylalanine and brain function in man
-
Krause W., Halminski M., McDonald L., Dembure P., Salvo R., Freides D., and Elsas L. Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria: a model for the study of phenylalanine and brain function in man. J. Clin. Invest. 75 (1985) 40-48
-
(1985)
J. Clin. Invest.
, vol.75
, pp. 40-48
-
-
Krause, W.1
Halminski, M.2
McDonald, L.3
Dembure, P.4
Salvo, R.5
Freides, D.6
Elsas, L.7
-
14
-
-
0034120708
-
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
-
Burlina A.B., Bonafe L., Ferrari V., Suppiej A., Zacchello F., and Burlina A.P. Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. J. Inherit. Metab. Dis. 23 (2000) 313-316
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 313-316
-
-
Burlina, A.B.1
Bonafe, L.2
Ferrari, V.3
Suppiej, A.4
Zacchello, F.5
Burlina, A.P.6
-
16
-
-
0028203239
-
Personality characteristics in patients with phenylketonuria treated early
-
Weglage J., Rupp A., and Schmidt E. Personality characteristics in patients with phenylketonuria treated early. Pediatr. Res. 35 (1994) 611-613
-
(1994)
Pediatr. Res.
, vol.35
, pp. 611-613
-
-
Weglage, J.1
Rupp, A.2
Schmidt, E.3
-
17
-
-
0029786370
-
Psychosocial aspects of phenylketonuria
-
Weglage J., Funders B., Ullrich K., Rupp A., and Schmidt E. Psychosocial aspects of phenylketonuria. Eur. J. Pediatr. 155 (1996) S101-S104
-
(1996)
Eur. J. Pediatr.
, vol.155
-
-
Weglage, J.1
Funders, B.2
Ullrich, K.3
Rupp, A.4
Schmidt, E.5
-
18
-
-
0033916129
-
Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and health controls
-
Weglage J., Grenzebach M., Pietsch M., Feldmann R., Linnenbank R., Denecke J., and Koch H.G. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and health controls. J. Inherit. Metab. Dis. 23 (2000) 487-496
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 487-496
-
-
Weglage, J.1
Grenzebach, M.2
Pietsch, M.3
Feldmann, R.4
Linnenbank, R.5
Denecke, J.6
Koch, H.G.7
-
19
-
-
0028631183
-
Psychopathology of patients treated early for phenylketonuria
-
Burgard P., Armbruster M., Schmidt E., and Rupp A. Psychopathology of patients treated early for phenylketonuria. Acta Paediatr. 407 (1994) 108-110
-
(1994)
Acta Paediatr.
, vol.407
, pp. 108-110
-
-
Burgard, P.1
Armbruster, M.2
Schmidt, E.3
Rupp, A.4
-
20
-
-
1842328552
-
Psychiatric disorders in adult patients with early-treated phenylketonuria
-
Pietz J., Fatkenheuer B., Burgard P., Armbruster M., Esser G., and Schmidt H. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics 99 (1997) 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
-
21
-
-
0034166769
-
Comparison of eating attitudes and behaviors among adolescents and young women with type 1 diabetes mellitus and phenylketonuria
-
Antisdel J.E., and Chrisler J.C. Comparison of eating attitudes and behaviors among adolescents and young women with type 1 diabetes mellitus and phenylketonuria. J. Dev. Behav. Pediatr. 21 (2000) 81-86
-
(2000)
J. Dev. Behav. Pediatr.
, vol.21
, pp. 81-86
-
-
Antisdel, J.E.1
Chrisler, J.C.2
-
22
-
-
84941432771
-
Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbingdung mit Imbezillitat
-
Følling A. Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbingdung mit Imbezillitat. Hoppe-Seylers Z. Physiol. Chem. 227 (1934) 169-176
-
(1934)
Hoppe-Seylers Z. Physiol. Chem.
, vol.227
, pp. 169-176
-
-
Følling, A.1
-
25
-
-
0018344879
-
Behavioral deviance in children with early treated phenylketonuria
-
Stevenson J.E., Hawcroft J., Lobascher M., Smith I., Wolff O.H., and Graham P.J. Behavioral deviance in children with early treated phenylketonuria. Arch. Dis. Child. 54 (1979) 14-18
-
(1979)
Arch. Dis. Child.
, vol.54
, pp. 14-18
-
-
Stevenson, J.E.1
Hawcroft, J.2
Lobascher, M.3
Smith, I.4
Wolff, O.H.5
Graham, P.J.6
-
26
-
-
0023840351
-
Behavior disturbance in 8-year-old children with early treated phenylketonuria
-
Smith I., Beasley M.G., Wolff O.H., and Ades A.E. Behavior disturbance in 8-year-old children with early treated phenylketonuria. J. Pediatr. 112 (1988) 403-408
-
(1988)
J. Pediatr.
, vol.112
, pp. 403-408
-
-
Smith, I.1
Beasley, M.G.2
Wolff, O.H.3
Ades, A.E.4
-
27
-
-
0024333597
-
Intelligence and behaviour in children with early treated phenylketonuria
-
Smith I., and Beasley M.G. Intelligence and behaviour in children with early treated phenylketonuria. Eur. J. Clin. Nutr. 43 (1989) 1-5
-
(1989)
Eur. J. Clin. Nutr.
, vol.43
, pp. 1-5
-
-
Smith, I.1
Beasley, M.G.2
-
28
-
-
0022609047
-
Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria
-
Holtzman N., Kronmal R., van Doorninck W., Azen C., and Koch R. Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N. Engl. J. Med. 314 (1986) 593-598
-
(1986)
N. Engl. J. Med.
, vol.314
, pp. 593-598
-
-
Holtzman, N.1
Kronmal, R.2
van Doorninck, W.3
Azen, C.4
Koch, R.5
-
29
-
-
0022537493
-
Psychiatric diagnosis and behavioral characteristics of phenylketonuria children
-
Realmuto G.M., Garfinkel B.D., Tuchman M., Tsai M.Y., Chang P.N., Fisch R.O., and Shapiro S. Psychiatric diagnosis and behavioral characteristics of phenylketonuria children. J. Nerv. Ment. Dis. 174 (1986) 536-540
-
(1986)
J. Nerv. Ment. Dis.
, vol.174
, pp. 536-540
-
-
Realmuto, G.M.1
Garfinkel, B.D.2
Tuchman, M.3
Tsai, M.Y.4
Chang, P.N.5
Fisch, R.O.6
Shapiro, S.7
-
30
-
-
2942585422
-
Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria
-
Arnold G.L., Vladutiu C.J., Orlowski C.C., Blakely E.M., and DeLuca J. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J. Inherit. Metab. Dis. 27 (2004) 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
-
31
-
-
0023578508
-
Phenylalanine control and family functioning in early-treated phenylketonuria
-
Reber M., Kazak A.E., and Himmelberg P. Phenylalanine control and family functioning in early-treated phenylketonuria. J. Dev. Behav. Pediatr. 8 (1987) 311-317
-
(1987)
J. Dev. Behav. Pediatr.
, vol.8
, pp. 311-317
-
-
Reber, M.1
Kazak, A.E.2
Himmelberg, P.3
-
32
-
-
0023879223
-
Childhood chronic disease and family functioning: a study of phenylketonuria
-
Kazak A., Reber M., and Snitzer L. Childhood chronic disease and family functioning: a study of phenylketonuria. Pediatrics 81 (1988) 224-230
-
(1988)
Pediatrics
, vol.81
, pp. 224-230
-
-
Kazak, A.1
Reber, M.2
Snitzer, L.3
-
33
-
-
0022532374
-
Social quotients of children with phenylketonuria before and after discontinuation of dietary therapy
-
Matthews W.S., Barabas G., Cusack E., and Ferrari M. Social quotients of children with phenylketonuria before and after discontinuation of dietary therapy. Am. J. Ment. Defic. 91 (1986) 92-94
-
(1986)
Am. J. Ment. Defic.
, vol.91
, pp. 92-94
-
-
Matthews, W.S.1
Barabas, G.2
Cusack, E.3
Ferrari, M.4
-
34
-
-
0026750657
-
Psychological and social findings in adolescents with phenylketonuria
-
Weglage J., Funders B., Wilken B., Schubert D., Schmidt E., Burgard P., and Ullrich K. Psychological and social findings in adolescents with phenylketonuria. Eur. J. Pediatr. 151 (1992) 522-525
-
(1992)
Eur. J. Pediatr.
, vol.151
, pp. 522-525
-
-
Weglage, J.1
Funders, B.2
Wilken, B.3
Schubert, D.4
Schmidt, E.5
Burgard, P.6
Ullrich, K.7
-
35
-
-
0035213267
-
Emotional outcome of adolescents and young adults with early and continuously treated phenylketonuria
-
Sullivan J.E. Emotional outcome of adolescents and young adults with early and continuously treated phenylketonuria. J. Pediatr. Psychol. 26 (2001) 477-484
-
(2001)
J. Pediatr. Psychol.
, vol.26
, pp. 477-484
-
-
Sullivan, J.E.1
-
36
-
-
0036085533
-
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal
-
Landolt M.A., Nuoffer J.M., Steinmann B., and Superti-Furga A. Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J. Pediatr. 140 (2002) 516-521
-
(2002)
J. Pediatr.
, vol.140
, pp. 516-521
-
-
Landolt, M.A.1
Nuoffer, J.M.2
Steinmann, B.3
Superti-Furga, A.4
-
37
-
-
0030807190
-
Adult psychosocial outcome in early-treated phenylketonuria
-
Ris M.D., Weber A.M., Hunt M.M., Berry H.K., Williams S.E., and Leslie N. Adult psychosocial outcome in early-treated phenylketonuria. J. Inherit. Metab. Dis. 20 (1997) 499-508
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 499-508
-
-
Ris, M.D.1
Weber, A.M.2
Hunt, M.M.3
Berry, H.K.4
Williams, S.E.5
Leslie, N.6
-
38
-
-
0028281369
-
Early-treated phenylketonuria: adult neuropsychologic outcome
-
Ris M.D., Williams S.E., Hunt M.M., Berry H.K., and Leslie N. Early-treated phenylketonuria: adult neuropsychologic outcome. J. Pediatr. 124 (1994) 388-392
-
(1994)
J. Pediatr.
, vol.124
, pp. 388-392
-
-
Ris, M.D.1
Williams, S.E.2
Hunt, M.M.3
Berry, H.K.4
Leslie, N.5
-
39
-
-
0027500145
-
EEGs in phenylketonuria. I. Follow-up to adulthood. II. Short-term diet-related changes in EEGs and cognitive function
-
Pietz J., Schmidt E., Matthis P., Kobialka B., Kuscha A., and de Sonneville L. EEGs in phenylketonuria. I. Follow-up to adulthood. II. Short-term diet-related changes in EEGs and cognitive function. Dev. Med. Child Neurol. 35 (1993) 54-64
-
(1993)
Dev. Med. Child Neurol.
, vol.35
, pp. 54-64
-
-
Pietz, J.1
Schmidt, E.2
Matthis, P.3
Kobialka, B.4
Kuscha, A.5
de Sonneville, L.6
-
40
-
-
0028136526
-
Personality disorders in young women with treated phenylketonuria
-
Waisbren S.E., and Zaff J. Personality disorders in young women with treated phenylketonuria. J. Inherit. Metab. Dis. 17 (1994) 584-592
-
(1994)
J. Inherit. Metab. Dis.
, vol.17
, pp. 584-592
-
-
Waisbren, S.E.1
Zaff, J.2
-
41
-
-
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., and Azen C. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 25 (2002) 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
-
43
-
-
42549100298
-
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria
-
Simon E., Schwarz M., Roos J., Dragano N., Geraedts M., Siegrist J., Kamp G., and Wendel U. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria. Health Qual. Life Outcomes 6 (2008) 25
-
(2008)
Health Qual. Life Outcomes
, vol.6
, pp. 25
-
-
Simon, E.1
Schwarz, M.2
Roos, J.3
Dragano, N.4
Geraedts, M.5
Siegrist, J.6
Kamp, G.7
Wendel, U.8
-
44
-
-
0033830620
-
Comments on behaviour in early treated phenylketonuria
-
Weglage J. Comments on behaviour in early treated phenylketonuria. Eur. J. Pediatr. 159 (2000) S94-S95
-
(2000)
Eur. J. Pediatr.
, vol.159
-
-
Weglage, J.1
-
45
-
-
51649099933
-
Stability of blood phenylalanine levels and IQ in children with phenylketonuria
-
Anastasoaie V., Kurzius L., Forbes P., and Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol. Genet. Metab. 95 (2008) 17-20
-
(2008)
Mol. Genet. Metab.
, vol.95
, pp. 17-20
-
-
Anastasoaie, V.1
Kurzius, L.2
Forbes, P.3
Waisbren, S.4
-
46
-
-
0031862013
-
Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria
-
Arnold G.L., Kramer B.M., Kirby R.S., Plumeau P.B., Blakely E.M., Sanger Cregan L.S., and Davidson P.W. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr. 87 (1998) 565-570
-
(1998)
Acta Paediatr.
, vol.87
, pp. 565-570
-
-
Arnold, G.L.1
Kramer, B.M.2
Kirby, R.S.3
Plumeau, P.B.4
Blakely, E.M.5
Sanger Cregan, L.S.6
Davidson, P.W.7
-
47
-
-
63449107693
-
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
-
Sapropterin Study Group
-
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., and Sapropterin Study Group. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J. Pediatr. 154 (2009) 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
-
48
-
-
0028297943
-
An animal model of early-treated PKU
-
Diamond A., Ciaramitaro V., Donner E., Djali S., and Robinson M. An animal model of early-treated PKU. J. Neurosci. 14 (1994) 3072-3082
-
(1994)
J. Neurosci.
, vol.14
, pp. 3072-3082
-
-
Diamond, A.1
Ciaramitaro, V.2
Donner, E.3
Djali, S.4
Robinson, M.5
|