Associated Papers
Computational Study of Pathogenic Variants in Phenylalanine-4-hydroxylase (PAH): Insights into Structure, Dynamics, and BH4 Binding.
Islam SM et al.
Acs Omega, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 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
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
28982351 (PubMed )
Supplement: 12881_2017_467_MOESM1_ESM.xls › Sheet1
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].
Song L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
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