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
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
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
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Qiang R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
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
Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.
Lee YW et al.
Experimental & Molecular Medicine, 2008
The molecular basis of phenylketonuria in Koreans.
Lee DH et al.
Journal of Human Genetics, 2004
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
Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Sueoka H et al.
Genetic Testing, 2000
Mutation screening of phenylketonuria in the Far East of Russia.
Sueoka H et al.
Journal of Human Genetics, 1999
Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.
Bjørgo E et al.
European Journal of Biochemistry, 1998
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.
Eiken HG et al.
European Journal of Pediatrics, 1996
Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.
Eiken HG et al.
European Journal of Human Genetics : Ejhg, 1996