-
1
-
-
77649251908
-
-
Anonymous (2003). PAHdb. Phenylalanine Hydroxylase Locus Knowledgebase. Available at [http://www.pahdb.mcgill.ca/]. Accessed August 4, 2009.
-
Anonymous (2003). PAHdb. Phenylalanine Hydroxylase Locus Knowledgebase. Available at [http://www.pahdb.mcgill.ca/]. Accessed August 4, 2009.
-
-
-
-
2
-
-
0035140148
-
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria
-
Acosta A, Silva W Jr, 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
-
3
-
-
0037389132
-
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency
-
Aulehla-Scholz C and Heilbronner H (2003). Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum. Mutat. 21: 399-400.
-
(2003)
Hum. Mutat
, vol.21
, pp. 399-400
-
-
Aulehla-Scholz, C.1
Heilbronner, H.2
-
4
-
-
0344603833
-
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency
-
Benit P, Rey F, Blandin-Savoja F, Munnich A, et al. (1999). The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 68: 43-47.
-
(1999)
Mol. Genet. Metab
, vol.68
, pp. 43-47
-
-
Benit, P.1
Rey, F.2
Blandin-Savoja, F.3
Munnich, A.4
-
5
-
-
43449107941
-
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
-
Bercovich D, Elimelech A, Zlotogora J, Korem S, et al. (2008). Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. J. Hum. Genet. 53: 407-418.
-
(2008)
J. Hum. Genet
, vol.53
, pp. 407-418
-
-
Bercovich, D.1
Elimelech, A.2
Zlotogora, J.3
Korem, S.4
-
6
-
-
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
-
7
-
-
62149087350
-
Functional and structural characterization of novel mutations and genotypephenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
-
Daniele A, Scala I, Cardillo G, Pennino C, et al. (2009). Functional and structural characterization of novel mutations and genotypephenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. FEBS J. 276: 2048-2059.
-
(2009)
FEBS J
, vol.276
, pp. 2048-2059
-
-
Daniele, A.1
Scala, I.2
Cardillo, G.3
Pennino, C.4
-
8
-
-
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
-
9
-
-
0034788710
-
Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
-
Dipple KM, Phelan JK and McCabe ER (2001). Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74: 45-50.
-
(2001)
Mol. Genet. Metab
, vol.74
, pp. 45-50
-
-
Dipple, K.M.1
Phelan, J.K.2
McCabe, E.R.3
-
10
-
-
0032711431
-
The structural basis of phenylketonuria
-
Erlandsen H and Stevens RC (1999). The structural basis of phenylketonuria. Mol. Genet. Metab. 68: 103-125.
-
(1999)
Mol. Genet. Metab
, vol.68
, pp. 103-125
-
-
Erlandsen, H.1
Stevens, R.C.2
-
11
-
-
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
-
12
-
-
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
-
13
-
-
0019288144
-
Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
-
Guttler F (1980). Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. Suppl 280: 1-80.
-
(1980)
Acta Paediatr. Scand. Suppl
, vol.280
, pp. 1-80
-
-
Guttler, F.1
-
14
-
-
0344931892
-
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the Maternal Phenylketonuria Collaborative Study
-
Guttler F, Azen C, Guldberg P, Romstad A, et al. (1999). Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics 104: 258-262.
-
(1999)
Pediatrics
, vol.104
, pp. 258-262
-
-
Guttler, F.1
Azen, C.2
Guldberg, P.3
Romstad, A.4
-
15
-
-
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
-
16
-
-
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
-
17
-
-
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
-
18
-
-
32044444061
-
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene
-
Kim SW, Jung J, Oh HJ, Kim J, et al. (2006). Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene. Clin. Chim. Acta 365: 279-287.
-
(2006)
Clin. Chim. Acta
, vol.365
, pp. 279-287
-
-
Kim, S.W.1
Jung, J.2
Oh, H.J.3
Kim, J.4
-
19
-
-
33646078589
-
Co-expression of different subunits of human phenyl- phenylalanine hydroxylase: Evidence of negative interallelic complementation
-
Leandro J, Nascimento C, de Almeida IT and Leandro P (2006). Co-expression of different subunits of human phenyl- phenylalanine hydroxylase: evidence of negative interallelic complementation. Biochim. Biophys. Acta 1762: 544-550.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 544-550
-
-
Leandro, J.1
Nascimento, C.2
de Almeida, I.T.3
Leandro, P.4
-
20
-
-
0032775654
-
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes
-
Mallolas J, Mila M, Lambruschini N, Cambra FJ, et al. (1999). Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes. Mol. Genet. Metab. 67: 156-161.
-
(1999)
Mol. Genet. Metab
, vol.67
, pp. 156-161
-
-
Mallolas, J.1
Mila, M.2
Lambruschini, N.3
Cambra, F.J.4
-
21
-
-
0018937431
-
The diagnosis of phenylketonuria: A report from the Collaborative Study of Children Treated for Phenylketonuria
-
O'Flynn ME, Holtzman NA, Blaskovics M, Azen C, et al. (1980). The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria. Am. J. Dis. Child 134: 769-774.
-
(1980)
Am. J. Dis. Child
, vol.134
, pp. 769-774
-
-
O'Flynn, M.E.1
Holtzman, N.A.2
Blaskovics, M.3
Azen, C.4
-
22
-
-
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
-
23
-
-
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
-
24
-
-
33644659315
-
Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil
-
Santos LL, Magalhaes MC, Reis AO, Starling AL, et al. (2006). Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil. Genet. Mol. Res. 5: 16-23.
-
(2006)
Genet. Mol. Res
, vol.5
, pp. 16-23
-
-
Santos, L.L.1
Magalhaes, M.C.2
Reis, A.O.3
Starling, A.L.4
-
25
-
-
54049140017
-
PKU in Minas Gerais State, Brazil: Mutation analysis
-
Santos LL, Castro-Magalhaes M, Fonseca CG, Starling AL, et al. (2008). PKU in Minas Gerais State, Brazil: mutation analysis. Ann. Hum. Genet. 72: 774-779.
-
(2008)
Ann. Hum. Genet
, vol.72
, pp. 774-779
-
-
Santos, L.L.1
Castro-Magalhaes, M.2
Fonseca, C.G.3
Starling, A.L.4
-
26
-
-
0036089031
-
-
SAS Institute (2003, SAS/STAT® Software: Changes and Enhacements through Release 9.1. SAS Institute, Cary. Scriver CR 2002, Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140: 502-506
-
SAS Institute (2003). SAS/STAT® Software: Changes and Enhacements through Release 9.1. SAS Institute, Cary. Scriver CR (2002). Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140: 502-506.
-
-
-
-
27
-
-
34848850451
-
The PAH gene, phenylketonuria, and a paradigm shift
-
Scriver CR (2007). The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28: 831-845.
-
(2007)
Hum. Mutat
, vol.28
, pp. 831-845
-
-
Scriver, C.R.1
-
28
-
-
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
-
29
-
-
0000134296
-
The Hyperphenylalaninemias
-
Scriver CR, Beaudet AL, Sly WS and Valle D, eds, McGraw-Hill, New York
-
Scriver CR and Kaufman S (2001). The Hyperphenylalaninemias. In: The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS and Valle D, eds.). 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
-
30
-
-
0037240146
-
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression
-
Waters PJ (2003). How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. Hum. Mutat. 21: 357-369.
-
(2003)
Hum. Mutat
, vol.21
, pp. 357-369
-
-
Waters, P.J.1
-
31
-
-
0031606734
-
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
-
Waters PJ, Parniak MA, Nowacki P and Scriver CR (1998). In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum. Mutat. 11: 4-17.
-
(1998)
Hum. Mutat
, vol.11
, pp. 4-17
-
-
Waters, P.J.1
Parniak, M.A.2
Nowacki, P.3
Scriver, C.R.4
-
32
-
-
0037237526
-
Phenylketonuria mutations in Europe
-
Zschocke J (2003). Phenylketonuria mutations in Europe. Hum. Mutat. 21: 345-356.
-
(2003)
Hum. Mutat
, vol.21
, pp. 345-356
-
-
Zschocke, J.1
|