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
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.
Klaassen K et al.
Scientific Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.
Zhu J et al.
Prenatal Diagnosis, 2024
[Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria].
Chai Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.
Rahimzadeh A et al.
Advanced Biomedical Research, 2024
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Zhu J et al.
Peerj, 2024
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Çıkı K et al.
Molecular Genetics and Metabolism, 2023
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
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
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Zhang C et al.
Orphanet Journal of Rare Diseases, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Zhang C et al.
Human Genomics, 2023
Clinical application value of expanded carrier screening in the population of childbearing age.
Fang Y et al.
European Journal of Medical Research, 2023
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Fang Y et al.
Human Genomics, 2023
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.
Jia A et al.
Pharmacogenomics and Personalized Medicine, 2023
Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.
Zeng B et al.
Frontiers in Genetics, 2023
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Zhang W et al.
Genetic Testing and Molecular Biomarkers, 2022
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Zhou J et al.
Molecular Biology Reports, 2022
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
Gao J et al.
Human Genomics, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.
Peng D et al.
Bmc Medical Genomics, 2021
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.
Chen C et al.
Bmc Medical Genomics, 2021
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.
Xiao Y et al.
Chinese Medical Journal, 2021
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
Wang X et al.
Orphanet Journal of Rare Diseases, 2021
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
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Ngiwsara L et al.
Molecular Biology Reports, 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 of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
Tao Y et al.
Brain & Development, 2021