Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

Tao, YL; Han, D; Shen, HY; Li, XZ

Li, XZ (corresponding author), Changzhi Maternal & Child Hlth Care Hosp, Med Genet Ctr, 38 Weiyuanmen Rd, Changzhi 046000, Shanxi, Peoples R China.

BRAIN & DEVELOPMENT, 2021; 43 (2): 220

Abstract

Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a c......

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