The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

BACKGROUND: Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. H...

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Detalles Bibliográficos
Autores principales: Wang, Jing, Yu, Yuping, Cai, Chunquan, Zhi, Xiufang, Zhang, Ying, Zhao, Yu, Shu, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109368/
https://www.ncbi.nlm.nih.gov/pubmed/35578201
http://dx.doi.org/10.1186/s12887-022-03252-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109368/
https://www.ncbi.nlm.nih.gov/pubmed/35578201
http://dx.doi.org/10.1186/s12887-022-03252-y

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