Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families

作     者：Yang Xiao Qiang Gu Hai-Rong Wu Song-Tao Wang Pei Pei Xue-Fei Zheng Hong Pan Yi-Nan Ma 

作者机构：Department of Central LaboratoryPeking University First HospitalBeijing 100034China Department of PediatricsPeking University First HospitalBeijing 100034China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2021年第134卷第13期

页      面：1626-1628页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：diagnosis hydroxylase maintained 

摘      要：To the Editor:Phenylketonuria(PKU)is an autosomal recessive genetic disease caused by pathogenic variants in the phenylalanine hydroxylase(PAH)gene encoding phenylalanine hydroxylase,a key enzyme in the metabo-lism of *** low-phenylalanine diet improves most of the neuropsychological disorders,but it is difficult to be maintained for a long period of time.