Associated Papers
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 variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.
Jafarzadeh-Esfehani R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 2018
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