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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Bibliographische Detailangaben

Hauptverfasser:	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.
Format:	Buchkapitel
Sprache:	eng
Schlagworte:	Acid phosphatase Cardiomyopathy Electron microscopy Hypertrophic Medical genetics Membrane-bound Metabolism Paediatric medicine Pompe disease (glycogen storage disease type II) Vacuolation
Online-Zugang:	Volltext
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