Associated Papers
Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria.
Kitayama K et al.
Journal of Inherited Metabolic Disease, 2026
Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.
Tamura M et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S et al.
International Journal of Neonatal Screening, 2021
Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.
Koshiba S et al.
Communications Biology, 2020
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
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
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y et al.
Journal of Human Genetics, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Response of phenylketonuria to tetrahydrobiopterin.
Michals-Matalon K et al.
The Journal of Nutrition, 2007
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.
Pérez B et al.
Molecular Genetics and Metabolism, 2005
Plasma biopterin levels and tetrahydrobiopterin responsiveness.
Shintaku H 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
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Okano Y et al.
Pediatric Research, 2004
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H et al.
Pediatric Research, 2004
The molecular basis of phenylketonuria in Koreans.
Lee DH et al.
Journal of Human Genetics, 2004
Rapid single-base mismatch detection in genotyping for phenylketonuria.
Takarada Y et al.
Molecular Biotechnology, 2003
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
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y et al.
Human Mutation, 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
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Kure S et al.
The Journal of Pediatrics, 1999
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
Pérez B et al.
American Journal of Human Genetics, 1997
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