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Skeletal Radiology
Published in: Skeletal Radiology 12/2009

01-12-2009 | Case Report

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

Authors: Andrew Del Gaizo, Sima Banerjee, Michael Terk

Published in: Skeletal Radiology | Issue 12/2009

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Abstract

Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity (Tinkle and Leslie. GeneReviews, 2008. http://​www.​genetests.​org). The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122–8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875–84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images.
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Metadata
Title
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases
Authors
Andrew Del Gaizo
Sima Banerjee
Michael Terk
Publication date
01-12-2009
Publisher
Springer Berlin Heidelberg
Published in
Skeletal Radiology / Issue 12/2009
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-009-0797-4

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