Associated Papers
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
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
Wang ZW et al.
The Kaohsiung Journal of 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
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
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Mutational spectrum of phenylketonuria in Jiangsu province.
Chen YF et al.
European Journal of Pediatrics, 2015
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Gu Y et al.
Plos One, 2014
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Chien YH et al.
Human Mutation, 2004
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
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