Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants

Fatemi, SHS; Eshraghi, P; Ghanei, M; Hamzehloei, T

Hamzehloei, T (通讯作者)，Mashhad Univ Med Sci, Dept Med Genet & Mol Med, Human Mol Genet, Mashhad 9177948564, Razavi Khorasan, Iran.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (12):

Abstract

Background: Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a d......

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