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  • Title: Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
    Author: Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I.
    Journal: Neuromuscul Disord; 2012 May; 22(5):389-93. PubMed ID: 22196155.
    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.
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