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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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Detalhes bibliográficos
Publicado no:Eur Heart J Case Rep
Main Authors: Lyo, Shawn, Miles, Jeremy, Meisner, Jay, Guelfguat, Mark
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7319828/
https://ncbi.nlm.nih.gov/pubmed/32617483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ehjcr/ytaa078
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