Associated Papers
The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.
Yu I et al.
International Journal of Stem Cells, 2025
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Bonfim-Freitas PE et al.
Molecular Genetics & Genomic Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.
Qiang R et al.
Bioscience Reports, 2021
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.
Koshiba S et al.
Communications Biology, 2020
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Duan H et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 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
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Li N et al.
Scientific Reports, 2018
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
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Zhou YA et al.
Genetics and Molecular Biology, 2012
[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].
Gao WH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y et al.
Journal of Human Genetics, 2011
Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
Zhu T et al.
Pediatric Research, 2010
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
Kim SW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Phenylketonuria mutations in Northern China.
Song F et al.
Molecular Genetics and Metabolism, 2005
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
Rapid single-base mismatch detection in genotyping for phenylketonuria.
Takarada Y et al.
Molecular Biotechnology, 2003
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
Molecular characterization of phenylketonuria in Japanese patients.
Okano Y et al.
Human Genetics, 1998
Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA.
Takahashi K et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993