Associated Papers
The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.
Akbulut S et al.
Molecular Genetics and Metabolism, 2025
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.
Kuzucu FN et al.
Metabolic Brain Disease, 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
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
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
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
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Zhang C et al.
Orphanet Journal of Rare Diseases, 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 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
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 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
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Molecular basis of mild hyperphenylalaninaemia in Turkey.
Yilmaz E et al.
Journal of Inherited Metabolic Disease, 2000
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
van der Sijs-Bos CJ et al.
Human Heredity, 0