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

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

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...

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Bibliographic Details
Main Authors: Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu, Wenjuan Qiu
Format: Article
Language:English
Published: BMC 2018-04-01
Series:BMC Medical Genetics
Subjects:
Glycogen storage disease IIIa
AGL gene
Clinical characteristics
Chinese
Online Access:http://link.springer.com/article/10.1186/s12881-018-0560-6

Internet

http://link.springer.com/article/10.1186/s12881-018-0560-6

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