-
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
-
3
-
-
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
-
4
-
-
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
-
5
-
-
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
-
6
-
-
0030999545
-
Genetic variability in two Brazilian ethnic groups: A comparison of mitochondrial and protein data
-
Bortolini MC, Salzano FM, Zago MA, Junior da Silva WA et al. (1997). Genetic variability in two Brazilian ethnic groups: a comparison of mitochondrial and protein data. Am. J. Phys. Anthropol. 103: 147-156.
-
(1997)
Am. J. Phys. Anthropol.
, vol.103
, pp. 147-156
-
-
Bortolini, M.C.1
Salzano, F.M.2
Zago, M.A.3
Da Silva Jr., W.A.4
-
7
-
-
0042763545
-
Y-chromosome evidence for differing ancient demographic histories in the Americas
-
Bortolini MC, Salzano FM, Thomas MG, Stuart S et al. (2003). Y-chromosome evidence for differing ancient demographic histories in the Americas. Am. J. Hum. Genet. 73: 524-539.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 524-539
-
-
Bortolini, M.C.1
Salzano, F.M.2
Thomas, M.G.3
Stuart, S.4
-
9
-
-
0038042122
-
Newborn screening: An overview
-
Carreiro-Lewandowski E (2002). Newborn screening: an overview. Clin. Lab. Sci. 15: 229-238.
-
(2002)
Clin. Lab. Sci.
, vol.15
, pp. 229-238
-
-
Carreiro-Lewandowski, E.1
-
11
-
-
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
-
12
-
-
0029076779
-
Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity
-
Desviat LR, Perez B, De Lucca M, Cornejo V et al. (1995). Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am. J. Hum. Genet. 57: 337-342.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 337-342
-
-
Desviat, L.R.1
Perez, B.2
De Lucca, M.3
Cornejo, V.4
-
13
-
-
0345517980
-
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions
-
Desviat LR, Perez B, Gamez A, Sanchez A et al. (1999). Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur. J. Hum. Genet. 7: 386-392.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 386-392
-
-
Desviat, L.R.1
Perez, B.2
Gamez, A.3
Sanchez, A.4
-
15
-
-
0025752980
-
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
-
Eiken HG, Odland E, Boman H, Skjelkvale L et al. (1991). Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res. 19: 1427-1430.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 1427-1430
-
-
Eiken, H.G.1
Odland, E.2
Boman, H.3
Skjelkvale, L.4
-
16
-
-
0027209388
-
Restriction enzyme-based assays for complete genotyping of phenylketonuria patients
-
Eiken HG, Knappskog PM and Apold J (1993). Restriction enzyme-based assays for complete genotyping of phenylketonuria patients. Dev. Brain Dysfunct. 6: 53-59.
-
(1993)
Dev. Brain Dysfunct.
, vol.6
, pp. 53-59
-
-
Eiken, H.G.1
Knappskog, P.M.2
Apold, J.3
-
17
-
-
0027017991
-
Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
-
Eisensmith RC and Woo SL (1992). Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum. Mutat. 1: 13-23.
-
(1992)
Hum. Mutat.
, vol.1
, pp. 13-23
-
-
Eisensmith, R.C.1
Woo, S.L.2
-
19
-
-
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
-
20
-
-
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
-
21
-
-
0025869758
-
Phenylketonuria in U.S. blacks: Molecular analysis of the phenylalanine hydroxylase gene
-
Hofman KJ, Steel G, Kazazian HH and Valle D (1991). Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. Am. J. Hum. Genet. 48: 791-798.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 791-798
-
-
Hofman, K.J.1
Steel, G.2
Kazazian, H.H.3
Valle, D.4
-
22
-
-
0033941841
-
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
-
Kidd JR, Pakstis AJ, Zhao H, Lu RB et al. (2000). Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am. J. Hum. Genet. 66: 1882-1899.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1882-1899
-
-
Kidd, J.R.1
Pakstis, A.J.2
Zhao, H.3
Lu, R.B.4
-
23
-
-
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
-
24
-
-
12244300531
-
Newborn screening: Rationale for a comprehensive, fully integrated public health system
-
McCabe LL, Therrell Jr BL and McCabe ER (2002). Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol. Genet. Metab. 77: 267-273.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 267-273
-
-
McCabe, L.L.1
Therrell Jr., B.L.2
McCabe, E.R.3
-
25
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD and Polesky HF (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
26
-
-
0027320221
-
Presence of the Mediterranean PKU mutation IVS10 in Latin America
-
Perez B, Desviat LR, Die M, Cornejo V et al. (1993). Presence of the Mediterranean PKU mutation IVS10 in Latin America. Hum. Mol. Genet. 2: 1289-1290.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1289-1290
-
-
Perez, B.1
Desviat, L.R.2
Die, M.3
Cornejo, V.4
-
28
-
-
0031025977
-
Analysis of the phenylalanine hydroxylase gene in the Spanish population: Mutation profile and association with intragenic polymorphic markers
-
Perez B, Desviat LR and Ugarte M (1997). Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers. Am. J. Hum. Genet. 60: 95-102.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 95-102
-
-
Perez, B.1
Desviat, L.R.2
Ugarte, M.3
-
29
-
-
0032618874
-
Molecular characterization of phenylalanine hydroxylase deficiency in Chile
-
Mutations in brief No. 243. Online
-
Perez B, Desviat LR, De Lucca M, Cornejo V et al. (1999). Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief No. 243. Online. Hum. Mutat. 13: 503.
-
(1999)
Hum. Mutat.
, vol.13
, pp. 503
-
-
Perez, B.1
Desviat, L.R.2
De Lucca, M.3
Cornejo, V.4
-
30
-
-
28844451504
-
The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study
-
in press
-
Pey AL and Martinez A (2005). The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study. Mol. Genet. Metab. (in press).
-
(2005)
Mol. Genet. Metab.
-
-
Pey, A.L.1
Martinez, A.2
-
31
-
-
0031979714
-
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
-
Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I et al. (1998). Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. J. Med. Genet. 35: 301-304.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 301-304
-
-
Rivera, I.1
Leandro, P.2
Lichter-Konecki, U.3
Tavares De Almeida, I.4
-
33
-
-
0000134296
-
Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
-
Scriver CR, Beaudet A, Sly WS, Valle D et al., eds. McGraw-Hill, New York, 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, Valle D et al., eds.). McGraw-Hill, New York, USA, pp. 1667-1724.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
35
-
-
0034622387
-
Screening for sickle-cell disease in Brazil
-
Serjeant GR (2000). Screening for sickle-cell disease in Brazil. Lancet 356: 168-169.
-
(2000)
Lancet
, vol.356
, pp. 168-169
-
-
Serjeant, G.R.1
-
36
-
-
0344733239
-
Analysis of frequencies
-
Emerson R, Kennedy D, ParkBeadle RB and Whitaker GB, eds. W.H. Freeman and Company, New York, USA
-
Sokal RR and Rohlf J (1969). Analysis of frequencies. In: Biometry (Emerson R, Kennedy D, ParkBeadle RB and Whitaker GB, eds.). W.H. Freeman and Company, New York, USA, pp. 549-610.
-
(1969)
Biometry
, pp. 549-610
-
-
Sokal, R.R.1
Rohlf, J.2
-
38
-
-
0035380906
-
Molecular analysis of phenylketonuria (PKU) in newborns from Texas
-
Yang Y, Drummond-Borg M and Garcia-Heras J (2001). Molecular analysis of phenylketonuria (PKU) in newborns from Texas. Hum. Mutat. 17: 523.
-
(2001)
Hum. Mutat.
, vol.17
, pp. 523
-
-
Yang, Y.1
Drummond-Borg, M.2
Garcia-Heras, J.3
-
39
-
-
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
-
40
-
-
0028802712
-
Phenylketonuria mutation analysis in Northern Ireland: A rapid stepwise approach
-
Zschocke J, Graham CA, Carson DJ and Nevin NC (1995). Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am. J. Hum. Genet. 57: 1311-1317.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1311-1317
-
-
Zschocke, J.1
Graham, C.A.2
Carson, D.J.3
Nevin, N.C.4
|