Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging

BACKGROUND: Glycogen storage disease type IV (GSD IV; Andersen’s disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable invol...

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Detalles Bibliográficos
Autores principales: Lyo, Shawn, Miles, Jeremy, Meisner, Jay, Guelfguat, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319828/
https://www.ncbi.nlm.nih.gov/pubmed/32617483
http://dx.doi.org/10.1093/ehjcr/ytaa078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319828/
https://www.ncbi.nlm.nih.gov/pubmed/32617483
http://dx.doi.org/10.1093/ehjcr/ytaa078

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