Associated Papers
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
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2018
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
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y et al.
Journal of Human Genetics, 2011
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
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
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H et al.
Pediatric Research, 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
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
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993