Gene mutations in children with phenylalanine hydroxylase deficiency: an analysis of 45 cases in some regions of Chongqing

Gene mutations in children with phenylalanine hydroxylase deficiency: an analysis of 45 cases in some regions of Chongqing

Objective To explore the gene mutation frequency and characteristics of phenylalanine hydroxylase (PAH) in PAH deficiency children in some regions of Chongqing in order to provide scientific reference for the diagnosis and treatment of the disease. Methods A retrospective analysis was conducted on 4...

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Bibliographic Details
Main Authors: WANG Dongjuan, ZHANG Juan, LIU Hao, YANG Jing, WAN Kexing, YUAN Zhaojian, YU Chaowen, ZHANG Dayong, LIU Shan, ZOU Lin
Format: Article
Language:zho
Published: Editorial Office of Journal of Third Military Medical University 2021-05-01
Series:Di-san junyi daxue xuebao
Subjects:
hyperphenylalaninemia
neonatal disease screening
phenylalanine hydroxylase
gene mutation
Online Access:http://aammt.tmmu.edu.cn/Upload/rhtml/202010198.htm

Internet

http://aammt.tmmu.edu.cn/Upload/rhtml/202010198.htm

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