Article
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
BMC medical genetics - 4 Apr 2018
Zhang Yu, Xu Mingming, Chen Xiaoxia, Yan Aijuan, Zhang Guoyong, Liu Zhenguo, Qiu Wenjuan
Abstract excerpt
BACKGROUND: Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population. CASE PRESENTATION: In this study, we aimed to study the genetic and clinical characteristics...
Topics
Join the communities discussing this publication.