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

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...

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Detalles Bibliográficos
Autores principales: Zhang, Yu, Xu, Mingming, Chen, Xiaoxia, Yan, Aijuan, Zhang, Guoyong, Liu, Zhenguo, Qiu, Wenjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883582/
https://www.ncbi.nlm.nih.gov/pubmed/29614965
http://dx.doi.org/10.1186/s12881-018-0560-6

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