Associated Papers
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala I et al.
Orphanet Journal of Rare Diseases, 2015
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A et al.
The Febs Journal, 2009
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2007
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Leuzzi V et al.
Journal of Inherited Metabolic Disease, 2006
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC et al.
European Journal of Human Genetics : Ejhg, 1998
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
Rozen R et al.
American Journal of Human Genetics, 1994