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Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.
PMID: 8088845 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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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, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, et al.
Am J Hum Genet. 1998 Jul; 63(1):71-9.
[Am J Hum Genet. 1998]
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Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.
Am J Hum Genet. 1997 Dec; 61(6):1309-17.
[Am J Hum Genet. 1997]
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Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, Rouse BM, Trefz F, de la Cruz F, Henriksen KF, Güttler F.
Am J Hum Genet. 1996 Jul; 59(1):84-94.
[Am J Hum Genet. 1996]
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