Associated Papers
Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.
Veleva D et al.
Stem Cell 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
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Razipour M et al.
Metabolic Brain Disease, 2017
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.
Bonyadi M et al.
Genetic Testing and Molecular Biomarkers, 2010
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
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