Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems. Here, we reported a case of familial GSD IV induced by nov...

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Detalles Bibliográficos
Autores principales: Li, Yiyang, Tian, Chuan, Huang, Si, Zhang, Weijie, Liutang, Qiuyu, Wang, Yajun, Ma, Guoda, Chen, Riling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679404/
https://www.ncbi.nlm.nih.gov/pubmed/36425069
http://dx.doi.org/10.3389/fgene.2022.1033944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679404/
https://www.ncbi.nlm.nih.gov/pubmed/36425069
http://dx.doi.org/10.3389/fgene.2022.1033944

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