Associated Papers
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
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
37525467 (PubMed )
Supplement: JCMM-27-2457-s005.xlsx › Sheet1
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
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
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
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Pecimonova M et al.
General Physiology and Biophysics, 2017
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Razipour M et al.
Metabolic Brain Disease, 2017
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T 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
Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
Zhu T et al.
Pediatric Research, 2010
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