Associated Papers
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
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.
Kuzucu FN et al.
Metabolic Brain Disease, 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
The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.
İlgüy M et al.
European Journal of Pediatrics, 2024
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.
Aguirre AS et al.
Bmc Pediatrics, 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 pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].
Yang P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 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
Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.
Sun M et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.
Yu X et al.
Discovery 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
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Zhang C et al.
Human Genomics, 2023
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Fang Y et al.
Human Genomics, 2023
A retrospective analysis of MS/MS screening for IEM in high-risk areas.
He X et al.
Bmc Medical 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
Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.
Zeng B et al.
Frontiers in Genetics, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y 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
Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.
Li H et al.
Bmc Neurology, 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
Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population.
Lin Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
Gao J et al.
Human Genomics, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria.
Wang L et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Newborn Screening in Japan-2021.
Tajima T
International Journal of Neonatal Screening, 2022
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.
Guan B et al.
Frontiers in Oncology, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.
Zhou M et al.
Frontiers in Pediatrics, 2022
Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Zhang H et al.
Frontiers in Genetics, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylase.
Zhang Z et al.
Organic & Biomolecular Chemistry, 2021
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021