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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
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 |