Associated Papers
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Scheller R et al.
Human Mutation, 2019
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K et al.
Human Mutation, 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
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
In silico analyses of the effects of a point mutation and a pharmacological chaperone on the thermal fluctuation of phenylalanine hydroxylase.
Hayakawa D et al.
Biophysical Chemistry, 2017
In silico thermodynamics stability change analysis involved in BH4 responsive mutations in phenylalanine hydroxylase: QM/MM and MD simulations analysis.
Chadha N et al.
Journal of Biomolecular Structure & Dynamics, 2015
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
Phenylalanine hydroxylase: function, structure, and regulation.
Flydal MI et al.
Iubmb Life, 2013
Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.
Ho PY et al.
Biochemical and Biophysical Research Communications, 2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.
Gramer G et al.
Journal of Inherited Metabolic Disease, 2007
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.
Pérez B et al.
Molecular Genetics and Metabolism, 2005
Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
Matalon R et al.
Molecular Genetics and Metabolism, 2005
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Erlandsen H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
Blau N et al.
European Journal of Pediatrics, 2003
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
Bernegger C et al.
Molecular Genetics and Metabolism, 2002
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Spaapen LJ et al.
Journal of Inherited Metabolic Disease, 2001
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Erlandsen H et al.
Journal of Inherited Metabolic Disease, 2001
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Biopterin responsive phenylalanine hydroxylase deficiency.
Matalon R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0