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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Upadia J et al.
Molecular Genetics and Metabolism Reports, 2024
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 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
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR et al.
Scientific Reports, 2022
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M et al.
Genes, 2021
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.
Teruya KI et al.
American Journal of Medical Genetics. Part A, 2021
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 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
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F et al.
Molecular Genetics & Genomic Medicine, 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
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Tresbach RH et al.
Genes, 2020
Neonatal phenylalanine wash-out in phenylketonuria.
Porta F et al.
Metabolic Brain Disease, 2020
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
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
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Yan Y et al.
Metabolic Brain Disease, 2019
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2019
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Chen T et al.
Scientific Reports, 2018
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Tolve M et al.
Methods and Protocols, 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
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 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
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.
Hamilton V et al.
Jimd Reports, 2018
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
Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.
Burgard P et al.
Jimd Reports, 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
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M et al.
Clinical Genetics, 2015
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.
Bashyam MD et al.
Journal of Cellular Biochemistry, 2014
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Gu Y et al.
Plos One, 2014
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation.
Murad H et al.
Gene, 2013
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E et al.
Gene, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013