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- W2093300250 abstract "INTRODUCTION: Pompe disease, also know as type II glycogen storage disease, acid maltase deficiency is an autosomal recessive genetic disorder. It is a rare, progressive, debilitating and often fatal neuromuscular disorder. Respiratory failure is the major cause of morbidity and mortality among patients affected with Pompe disease (2). We present a case of an adult patient with Pompe disease and discuss the clinical, pathological presentation and investigations along with current approach to management of Pompe disease." @default.
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- W2093300250 date "2010-10-01" @default.
- W2093300250 modified "2023-10-18" @default.
- W2093300250 title "Muscle Weakness and Respiratory Failure From an Orphan Disease: Adult Onset Pompe Disease (Acid Alpha-Glucosidase Deficiency)" @default.
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- W2093300250 doi "https://doi.org/10.1378/chest.10993" @default.
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