Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII)....

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Mori, Mari, Bailey, Lauren A., Estrada, Januario, Rehder, Catherine W., Li, Jennifer S., Rogers, Joseph G., Bali, Deeksha S., Buckley, Anne F., Kishnani, Priya S.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388642/
https://ncbi.nlm.nih.gov/pubmed/27142047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_563
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