Associated Papers
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
Gao J et al.
Human Genomics, 2022
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Chen T et al.
Scientific Reports, 2018
[Research progress on phenotype and genotype of hyperphenylalaninemia].
Chen T et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 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
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Zhou YA et al.
Genetics and Molecular Biology, 2012
[In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene].
Song F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Phenylketonuria mutations in Northern China.
Song F et al.
Molecular Genetics and Metabolism, 2005
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Pérez-Dueñas B et al.
Clinical Biochemistry, 2004
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.
Mallolas J et al.
Human Mutation, 1998
[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].
Mallolas J et al.
Revista De Neurologia, 0