Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China

• Main Authors: Yu Zhang (Author), Mingming Xu (Author), Xiaoxia Chen (Author), Aijuan Yan (Author), Guoyong Zhang (Author), Zhenguo Liu (Author), Wenjuan Qiu (Author)
• Format: Book
• Published: BMC, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...