Case Reports
doi: 10.1016/j.nmd.2011.11.003.
Epub 2011 Dec 21.
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
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- PMID: 22196155
- DOI: 10.1016/j.nmd.2011.11.003
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Case Reports
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
Neuromuscul Disord.
2012 May.
Abstract
Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent.
Copyright © 2011 Elsevier B.V. All rights reserved.
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