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- W2031127035 abstract "Article abstract To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a clinical, biochemical, and genetic study of 18 patients with this disease. Measurement of acid α-glucosidase (GAA) activity in muscle and histopathologic analysis of muscle tissue appeared to have no additional value when GAA activity in leukocytes was clearly deficient. Our study showed that creatine kinase elevation is a sensitive marker of GSD II. A diagnostic protocol is formulated." @default.
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- W2031127035 title "A diagnostic protocol for adult-onset glycogen storage disease type II" @default.
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- W2031127035 doi "https://doi.org/10.1212/wnl.52.4.851" @default.
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