A comprehensive study of mutations in PAH, QDPR, PTS, and PCD genes in Iranian patients with Hyperphenylalaninemia; A systematic review

Ghanei, M; Fatemi, SHS; Hamzehlouei, T

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

HUMAN HEREDITY, 2023; 88 (1): 8

Abstract

Background: Hyperphenylalaninemia (HPA) is an autosomal recessive disorder that results from a deficiency in the phenylalanine hydroxylase enzyme (PAH......

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