Associated Papers
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
Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.
Veleva D et al.
Stem Cell Research, 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
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
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I et al.
Human Genetics, 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT et al.
Research Square, 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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
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
Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.
Zhao Z et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension.
Wang XJ et al.
Jama Cardiology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.
Yan Y et al.
Acs Omega, 2020
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Rapid detection of PAH gene mutations in Chinese people.
Zhang X et al.
Bmc Medical Genetics, 2019
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
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Li N et al.
Scientific Reports, 2018
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
Zhu T et al.
Scientific Reports, 2017
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E et al.
Orphanet Journal of Rare Diseases, 2015
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
Prenatal diagnosis of Chinese families with phenylketonuria.
Liu N et al.
Genetics and Molecular Research : Gmr, 2015
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Dictyostelium discoideum Ax2 as an Assay System for Screening of Pharmacological Chaperones for Phenylketonuria Mutations.
Kim YM et al.
Journal of Microbiology and Biotechnology, 2015
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
Biglari A et al.
Springerplus, 2015