Associated Papers
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
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
Sadat Fatemi SH et al.
Molecular Genetics & Genomic Medicine, 2022
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.
Foroozani H et al.
Jimd Reports, 2015
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