-
1
-
-
0035140148
-
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria
-
Acosta A, Silva Jr W, Carvalho T, Gomes M et al. (2001). Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. Hum. Mutat. 17: 122-130.
-
(2001)
Hum. Mutat.
, vol.17
, pp. 122-130
-
-
Acosta, A.1
Silva Jr., W.2
Carvalho, T.3
Gomes, M.4
-
2
-
-
5344249425
-
Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy
-
Acosta PB, Yannicelli S, Singh R, Mofidi S et al. (2003). Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J. Am. Diet. Assoc. 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
-
3
-
-
0036694803
-
Protein insufficiency and linear growth restriction in phenylketonuria
-
Arnold GL, Vladutiu CJ, Kirby RS, Blakely EM et al. (2002). Protein insufficiency and linear growth restriction in phenylketonuria. J. Pediatr. 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
-
4
-
-
0036430354
-
Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia
-
Bardelli T, Donati MA, Gasperini S, Ciani F et al. (2002). Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol. Genet. Metab. 77: 260-266.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 260-266
-
-
Bardelli, T.1
Donati, M.A.2
Gasperini, S.3
Ciani, F.4
-
5
-
-
0028269579
-
Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971
-
Beasley MG, Costello PM and Smith I (1994). Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971. Q. J. Med. 87: 155-160.
-
(1994)
Q. J. Med.
, vol.87
, pp. 155-160
-
-
Beasley, M.G.1
Costello, P.M.2
Smith, I.3
-
6
-
-
0036928279
-
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1,919 patients observed from 1988 to 2002
-
Bernegger C and Blau N (2002). High frequency of tetrahydrobiopterin- responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol. Genet. Metab. 77: 304-313.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 304-313
-
-
Bernegger, C.1
Blau, N.2
-
7
-
-
2542429299
-
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Blau N and Erlandsen H (2004). The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 82: 101-111.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 101-111
-
-
Blau, N.1
Erlandsen, H.2
-
8
-
-
0347301642
-
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria
-
Cerone R, Schiaffino MC, Fantasia AR, Perfumo M et al. (2004). Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. Mol. Genet. Metab. 81: 137-139.
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 137-139
-
-
Cerone, R.1
Schiaffino, M.C.2
Fantasia, A.R.3
Perfumo, M.4
-
9
-
-
0037872015
-
Asbjorn Folling and the discovery of phenylketonuria
-
Christ SE (2003). Asbjorn Folling and the discovery of phenylketonuria. J. Hist. Neurosci. 12: 44-54.
-
(2003)
J. Hist. Neurosci.
, vol.12
, pp. 44-54
-
-
Christ, S.E.1
-
10
-
-
0034501382
-
Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes
-
Christensen R, Kolvraa S, Blaese RM and Jensen TG (2000). Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes. Gene Ther. 7: 1971-1978.
-
(2000)
Gene Ther.
, vol.7
, pp. 1971-1978
-
-
Christensen, R.1
Kolvraa, S.2
Blaese, R.M.3
Jensen, T.G.4
-
11
-
-
0036392185
-
Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria
-
Christensen R, Guttler F and Jensen TG (2002). Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria. Mol. Genet. Metab. 76: 313-318.
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 313-318
-
-
Christensen, R.1
Guttler, F.2
Jensen, T.G.3
-
12
-
-
21244503093
-
Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin
-
Christensen R, Alhonen L, Wahlfors J, Jakobsen M et al. (2005a). Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin. Exp. Dermatol. 14: 535-542.
-
(2005)
Exp. Dermatol.
, vol.14
, pp. 535-542
-
-
Christensen, R.1
Alhonen, L.2
Wahlfors, J.3
Jakobsen, M.4
-
13
-
-
23244440754
-
Manipulation of the phenylalanine metabolism in human keratinocytes by retroviral mediated gene transfer
-
Christensen R, Kolvraa S and Jensen TG (2005b). Manipulation of the phenylalanine metabolism in human keratinocytes by retroviral mediated gene transfer. Cells Tissues Organs 179: 170-178.
-
(2005)
Cells Tissues Organs
, vol.179
, pp. 170-178
-
-
Christensen, R.1
Kolvraa, S.2
Jensen, T.G.3
-
14
-
-
0036133045
-
Neonatal biochemical screening for disease
-
Clague A and Thomas A (2002). Neonatal biochemical screening for disease. Clin. Chim. Acta 315: 99-110.
-
(2002)
Clin. Chim. Acta
, vol.315
, pp. 99-110
-
-
Clague, A.1
Thomas, A.2
-
15
-
-
7344250678
-
Mutation-selection balance with multiple alleles
-
Clark AG (1998). Mutation-selection balance with multiple alleles. Genetica 102-103: 41-47.
-
(1998)
Genetica
, vol.102-103
, pp. 41-47
-
-
Clark, A.G.1
-
16
-
-
4744358646
-
Tetrahydrobiopterin responsiveness: Results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype
-
Desviat LR, Perez B, Belanger-Quintana A, Castro M et al. (2004). Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol. Genet. Metab. 83: 157-162.
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 157-162
-
-
Desviat, L.R.1
Perez, B.2
Belanger-Quintana, A.3
Castro, M.4
-
18
-
-
0033911995
-
Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
-
Dipple KM and McCabe ER (2000). Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66: 1729-1735.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1729-1735
-
-
Dipple, K.M.1
McCabe, E.R.2
-
20
-
-
31344482624
-
Gene therapy for phenylketonuria
-
Eisensmith RC and Woo SL (1996). Gene therapy for phenylketonuria. Eur. J. Pediatr. 155 (Suppl 1): S16-S19.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.1 SUPPL.
-
-
Eisensmith, R.C.1
Woo, S.L.2
-
21
-
-
0034744074
-
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
-
Erlandsen H and Stevens RC (2001). A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. J. Inherit. Metab. Dis. 24: 213-230.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 213-230
-
-
Erlandsen, H.1
Stevens, R.C.2
-
22
-
-
0346753973
-
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria
-
Erlandsen H, Patch MG, Gamez A, Straub M et al. (2003). Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics 112: 1557-1565.
-
(2003)
Pediatrics
, vol.112
, pp. 1557-1565
-
-
Erlandsen, H.1
Patch, M.G.2
Gamez, A.3
Straub, M.4
-
23
-
-
0028464358
-
Gene therapy for phenylketonuria: Phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer
-
Fang B, Eisensmith RC, Li XH, Finegold MJ et al. (1994). Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. Gene Ther. 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
-
24
-
-
0033835384
-
Comments on diet and compliance in phenylketonuria
-
Fisch RO (2000). Comments on diet and compliance in phenylketonuria. Eur. J. Pediatr. 159 (Suppl 2): S142-S144.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.2 SUPPL.
-
-
Fisch, R.O.1
-
25
-
-
21144457069
-
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria
-
Gamez A, Sarkissian CN, Wang L, Kim W et al. (2005). Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Mol. Ther. 11: 986-989.
-
(2005)
Mol. Ther.
, vol.11
, pp. 986-989
-
-
Gamez, A.1
Sarkissian, C.N.2
Wang, L.3
Kim, W.4
-
26
-
-
0034909756
-
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics
-
Gjetting T, Romstad A, Haavik J, Knappskog PM et al. (2001). A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. Mol. Genet. Metab. 73: 280-284.
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 280-284
-
-
Gjetting, T.1
Romstad, A.2
Haavik, J.3
Knappskog, P.M.4
-
27
-
-
0034124666
-
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia
-
Greeves LG, Patterson CC, Carson DJ, Thom R et al. (2000). Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia. Arch. Dis. Child. 82: 216-221.
-
(2000)
Arch. Dis. Child.
, vol.82
, pp. 216-221
-
-
Greeves, L.G.1
Patterson, C.C.2
Carson, D.J.3
Thom, R.4
-
28
-
-
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 et al. (1998). 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. 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
-
29
-
-
0031834511
-
Metabolic engineering as therapy for inborn errors of metabolism-development of mice with phenylalanine hydroxylase expression in muscle
-
Harding CO, Wild K, Chang D, Messing A et al. (1998). Metabolic engineering as therapy for inborn errors of metabolism-development of mice with phenylalanine hydroxylase expression in muscle. Gene Ther. 5: 677-683.
-
(1998)
Gene Ther.
, vol.5
, pp. 677-683
-
-
Harding, C.O.1
Wild, K.2
Chang, D.3
Messing, A.4
-
30
-
-
0346838306
-
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice
-
Harding CO, Neff M, Jones K, Wild K et al. (2003). Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. J. Gene Med. 5: 984-993.
-
(2003)
J. Gene Med.
, vol.5
, pp. 984-993
-
-
Harding, C.O.1
Neff, M.2
Jones, K.3
Wild, K.4
-
31
-
-
0346059411
-
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria
-
Harding CO, Neff M, Wild K, Jones K et al. (2004). The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. Mol. Genet. Metab. 81: 52-57.
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 52-57
-
-
Harding, C.O.1
Neff, M.2
Wild, K.3
Jones, K.4
-
32
-
-
28844484633
-
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
-
in press
-
Hennermann JB, Buhrer C, Blau N and Vetter B (2005). Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol. Genet. Metab. (in press).
-
(2005)
Mol. Genet. Metab.
-
-
Hennermann, J.B.1
Buhrer, C.2
Blau, N.3
Vetter, B.4
-
33
-
-
28644437751
-
Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria
-
in press
-
Ikeda K, Schiltz E, Fujii T and Takahashi M (2005). Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria. Amino Acids (in press).
-
(2005)
Amino Acids
-
-
Ikeda, K.1
Schiltz, E.2
Fujii, T.3
Takahashi, M.4
-
34
-
-
0033822814
-
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria
-
Jennings IG, Cotton RG and Kobe B (2000). Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. Eur. J. Hum. Genet. 8: 683-696.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 683-696
-
-
Jennings, I.G.1
Cotton, R.G.2
Kobe, B.3
-
35
-
-
0037303497
-
Functional properties of multispecific amino acid transporters and their implications to transporter-mediated toxicity
-
Kanai Y and Endou H (2003). Functional properties of multispecific amino acid transporters and their implications to transporter-mediated toxicity. J. Toxicol. Sci. 28: 1-17.
-
(2003)
J. Toxicol. Sci.
, vol.28
, pp. 1-17
-
-
Kanai, Y.1
Endou, H.2
-
36
-
-
0037355054
-
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: Investigation of PKU/MHP patients from Lithuania
-
Kasnauskiene J, Cimbalistiene L and Kucinskas V (2003). Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. Med. Sci. Monit. 9: CR142-CR146.
-
(2003)
Med. Sci. Monit.
, vol.9
-
-
Kasnauskiene, J.1
Cimbalistiene, L.2
Kucinskas, V.3
-
37
-
-
0041806502
-
Looking into the safety of AAV vectors
-
Kay MA and Nakai H (2003). Looking into the safety of AAV vectors. Nature 424: 251.
-
(2003)
Nature
, vol.424
, pp. 251
-
-
Kay, M.A.1
Nakai, H.2
-
38
-
-
0031472356
-
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations
-
Kayaalp E, Treacy E, Waters PJ, Byck S et al. (1997). Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61: 1309-1317.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1309-1317
-
-
Kayaalp, E.1
Treacy, E.2
Waters, P.J.3
Byck, S.4
-
40
-
-
0037941238
-
Large neutral amino acid therapy and phenylketonuria: A promising approach to treatment
-
Koch R, Moseley KD, Yano S, Nelson Jr M et al. (2003). Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol. Genet. Metab. 79: 110-113.
-
(2003)
Mol. Genet. Metab.
, vol.79
, pp. 110-113
-
-
Koch, R.1
Moseley, K.D.2
Yano, S.3
Nelson Jr., M.4
-
41
-
-
0036085533
-
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal
-
Landolt MA, Nuoffer JM, Steinmann B and Superti-Furga A (2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J. Pediatr. 140: 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
-
42
-
-
13244292426
-
Maternal phenylketonuria: Report from the United Kingdom Registry 1978-97
-
Lee PJ, Ridout D, Walter JH and Cockburn F (2005). Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch. Dis. Child. 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
-
43
-
-
2942598072
-
Executive function impairment in early-treated PKU subjects with normal mental development
-
Leuzzi V, Pansini M, Sechi E, Chiarotti F et al. (2004). Executive function impairment in early-treated PKU subjects with normal mental development. J. Inherit. Metab. Dis. 27: 115-125.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 115-125
-
-
Leuzzi, V.1
Pansini, M.2
Sechi, E.3
Chiarotti, F.4
-
44
-
-
0033514946
-
Phenylketonuria: Old disease, new approach to treatment
-
Levy HL (1999). Phenylketonuria: old disease, new approach to treatment. Proc. Natl. Acad. Sci. USA 96: 1811-1813.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1811-1813
-
-
Levy, H.L.1
-
45
-
-
0030729368
-
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer
-
Lin CM, Tan Y, Lee YM, Chang CC et al. (1997). Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. J. Inherit. Metab. Dis. 20: 742-754.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 742-754
-
-
Lin, C.M.1
Tan, Y.2
Lee, Y.M.3
Chang, C.C.4
-
46
-
-
0035718935
-
Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype
-
Lindner M, Haas D, Mayatepek E, Zschocke J et al. (2001). Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol. Genet. Metab. 73: 104-106.
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 104-106
-
-
Lindner, M.1
Haas, D.2
Mayatepek, E.3
Zschocke, J.4
-
48
-
-
0033826876
-
Diet and compliance in phenylketonuria
-
MacDonald A (2000). Diet and compliance in phenylketonuria. Eur. J. Pediatr. 159 (Suppl 2): S136-S141.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.2 SUPPL.
-
-
MacDonald, A.1
-
49
-
-
0037383731
-
Are tablets a practical source of protein substitute in phenylketonuria?
-
MacDonald A, Ferguson C, Rylance G, Morris AA et al. (2003). Are tablets a practical source of protein substitute in phenylketonuria? Arch. Dis. Child. 88: 327-329.
-
(2003)
Arch. Dis. Child.
, vol.88
, pp. 327-329
-
-
MacDonald, A.1
Ferguson, C.2
Rylance, G.3
Morris, A.A.4
-
51
-
-
0344394559
-
Future role of large neutral amino acids in transport of phenylalanine into the brain
-
Matalon R, Surendran S, Matalon KM, Tyring S et al. (2003). Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics 112: 1570-1574.
-
(2003)
Pediatrics
, vol.112
, pp. 1570-1574
-
-
Matalon, R.1
Surendran, S.2
Matalon, K.M.3
Tyring, S.4
-
52
-
-
0141926650
-
Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria
-
Merrick J, Aspler S and Schwarz G (2003). Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria. Int. J. Adolesc. Med. Health 15: 165-168.
-
(2003)
Int. J. Adolesc. Med. Health
, vol.15
, pp. 165-168
-
-
Merrick, J.1
Aspler, S.2
Schwarz, G.3
-
53
-
-
0348014925
-
Brain phenylalanine concentrations in phenylketonuria: Research and treatment of adults
-
Moats RA, Moseley KD, Koch R and Nelson Jr M (2003). Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults. Pediatrics 112: 1575-1579.
-
(2003)
Pediatrics
, vol.112
, pp. 1575-1579
-
-
Moats, R.A.1
Moseley, K.D.2
Koch, R.3
Nelson Jr., M.4
-
54
-
-
0032939161
-
Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer
-
Nagasaki Y, Matsubara Y, Takano H, Fujii K et al. (1999). Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer. Pediatr. Res. 45: 465-473.
-
(1999)
Pediatr. Res.
, vol.45
, pp. 465-473
-
-
Nagasaki, Y.1
Matsubara, Y.2
Takano, H.3
Fujii, K.4
-
55
-
-
3242778717
-
Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer
-
Oh HJ, Park ES, Kang S, Jo I et al. (2004). Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer. Pediatr. Res. 56: 278-284.
-
(2004)
Pediatr. Res.
, vol.56
, pp. 278-284
-
-
Oh, H.J.1
Park, E.S.2
Kang, S.3
Jo, I.4
-
57
-
-
0037242342
-
Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH
-
Pey AL, Desviat LR, Gamez A, Ugarte M et al. (2003). Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum. Mutat. 21: 370-378.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 370-378
-
-
Pey, A.L.1
Desviat, L.R.2
Gamez, A.3
Ugarte, M.4
-
58
-
-
0033560647
-
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
-
Pietz J, Kreis R, Rupp A, Mayatepek E et al. (1999). Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J. Clin. Invest. 103: 1169-1178.
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 1169-1178
-
-
Pietz, J.1
Kreis, R.2
Rupp, A.3
Mayatepek, E.4
-
59
-
-
0033835283
-
Nutrition, physical growth, and bone density in treated phenylketonuria
-
Przyrembel H and Bremer HJ (2000). Nutrition, physical growth, and bone density in treated phenylketonuria. Eur. J. Pediatr. 159 (Suppl 2): S129-S135.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.2 SUPPL.
-
-
Przyrembel, H.1
Bremer, H.J.2
-
60
-
-
0034053978
-
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients
-
Rivera I, Cabral A, Almeida M, Leandro P et al. (2000). The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients. Mol. Genet. Metab. 69: 195-203.
-
(2000)
Mol. Genet. Metab.
, vol.69
, pp. 195-203
-
-
Rivera, I.1
Cabral, A.2
Almeida, M.3
Leandro, P.4
-
61
-
-
0035204804
-
Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria
-
Rohr FJ, Munier AW and Levy HL (2001). Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria. J. Inherit. Metab. Dis. 24: 623-630.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 623-630
-
-
Rohr, F.J.1
Munier, A.W.2
Levy, H.L.3
-
62
-
-
0006318363
-
The amino acid requirements of man. IX. The phenylalanine requirement
-
Rose WC, Leach BE, Coon MJ and Lambert GF (1955). The amino acid requirements of man. IX. The phenylalanine requirement. J. Biol. Chem. 213: 913-922.
-
(1955)
J. Biol. Chem.
, vol.213
, pp. 913-922
-
-
Rose, W.C.1
Leach, B.E.2
Coon, M.J.3
Lambert, G.F.4
-
63
-
-
0033514997
-
A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase
-
Sarkissian CN, Shao Z, Blain F, Peevers R et al. (1999). A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc. Natl. Acad. Sci. USA 96: 2339-2344.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 2339-2344
-
-
Sarkissian, C.N.1
Shao, Z.2
Blain, F.3
Peevers, R.4
-
64
-
-
0032116732
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963; 32: 318-343
-
Scriver CC (1998). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963; 32: 318-343. Pediatrics 102: 236-237.
-
(1998)
Pediatrics
, vol.102
, pp. 236-237
-
-
Scriver, C.C.1
-
65
-
-
0036089031
-
Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics
-
Scriver CR (2002). Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140: 502-506.
-
(2002)
J. Pediatr.
, vol.140
, pp. 502-506
-
-
Scriver, C.R.1
-
66
-
-
0033168957
-
Monogenic traits are not simple: Lessons from phenylketonuria
-
Scriver CR and Waters PJ (1999). Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15: 267-272.
-
(1999)
Trends Genet.
, vol.15
, pp. 267-272
-
-
Scriver, C.R.1
Waters, P.J.2
-
67
-
-
0000134296
-
Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
-
(Scriver CR, Beaudet A, Sly WS and Childs, eds.). McGraw-Hill Inc., New York, NY, USA
-
Scriver CR and Kaufman S (2001). Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: The metabolic and molecular bases of inherited disease (Scriver CR, Beaudet A, Sly WS and Childs, eds.). McGraw-Hill Inc., New York, NY, USA, pp. 1667-1724.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
69
-
-
0033835383
-
Behaviour in early treated phenylketonuria: A systematic review
-
Smith I and Knowles J (2000). Behaviour in early treated phenylketonuria: a systematic review. Eur. J. Pediatr. 159 (Suppl 2): S89-S93.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.2 SUPPL.
-
-
Smith, I.1
Knowles, J.2
-
70
-
-
0037331447
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art
-
Spaapen LJ and Rubio-Gozalbo ME (2003). Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Mol. Genet. Metab. 78: 93-99.
-
(2003)
Mol. Genet. Metab.
, vol.78
, pp. 93-99
-
-
Spaapen, L.J.1
Rubio-Gozalbo, M.E.2
-
71
-
-
0032240269
-
Treating phenylketonuria by a phenylalanine-free diet
-
Start K (1998). Treating phenylketonuria by a phenylalanine-free diet. Prof. Care Mother. Child. 8: 109-110.
-
(1998)
Prof. Care Mother. Child.
, vol.8
, pp. 109-110
-
-
Start, K.1
-
72
-
-
0042268005
-
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency
-
Steinfeld R, Kohlschutter A, Ullrich K and Lukacs Z (2003). A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency. Amino Acids 25: 63-68.
-
(2003)
Amino Acids
, vol.25
, pp. 63-68
-
-
Steinfeld, R.1
Kohlschutter, A.2
Ullrich, K.3
Lukacs, Z.4
-
74
-
-
0033827010
-
The neurochemistry of phenylketonuria
-
Surtees R and Blau N (2000). The neurochemistry of phenylketonuria. Eur. J. Pediatr. 159 (Suppl 2): S109-S113.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.2 SUPPL.
-
-
Surtees, R.1
Blau, N.2
-
75
-
-
8844256618
-
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia
-
Thony B, Ding Z and Martinez A (2004). Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS Lett. 577: 507-511.
-
(2004)
FEBS Lett.
, vol.577
, pp. 507-511
-
-
Thony, B.1
Ding, Z.2
Martinez, A.3
-
76
-
-
0346753967
-
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria
-
Trefz FK and Blau N (2003). Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics 112: 1566-1569.
-
(2003)
Pediatrics
, vol.112
, pp. 1566-1569
-
-
Trefz, F.K.1
Blau, N.2
-
77
-
-
0023096908
-
Predictors of intelligence quotient and intelligence quotient change in persons treated for phenylketonuria early in life
-
Waisbren SE, Mahon BE, Schnell RR and Levy HL (1987). Predictors of intelligence quotient and intelligence quotient change in persons treated for phenylketonuria early in life. Pediatrics 79: 351-355.
-
(1987)
Pediatrics
, vol.79
, pp. 351-355
-
-
Waisbren, S.E.1
Mahon, B.E.2
Schnell, R.R.3
Levy, H.L.4
-
78
-
-
0037031064
-
How practical are recommendations for dietary control in phenylketonuria?
-
Walter JH, White FJ, Hall SK, MacDonald A et al. (2002). How practical are recommendations for dietary control in phenylketonuria? Lancet 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
-
79
-
-
12244308540
-
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria
-
Weglage J, Wiedermann D, Denecke J, Feldmann R et al. (2002). Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. J. Inherit. Metab. Dis. 25: 431-436.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 431-436
-
-
Weglage, J.1
Wiedermann, D.2
Denecke, J.3
Feldmann, R.4
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