Associated Papers
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Bik-Multanowski M et al.
Scientific Reports, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
Danecka MK et al.
Journal of Medical Genetics, 2015
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Réblová K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Bik-Multanowski M et al.
Acta Biochimica Polonica, 2013
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Quirk ME et al.
Molecular Genetics and Metabolism, 2012
The phylogeny of the aromatic amino acid hydroxylases revisited by characterizing phenylalanine hydroxylase from Dictyostelium discoideum.
Siltberg-Liberles J et al.
Gene, 2008
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Hennermann JB et al.
Human Mutation, 2000
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 et al.
American Journal of Human Genetics, 1998
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus.
Zygulska M et al.
Human Mutation, 1994
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
Zygulska M et al.
Human Mutation, 1993
Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.
DiSilvestre D et al.
American Journal of Human Genetics, 1991