A diagnostic protocol for adult-onset glycogen storage disease type II-Reference-Cited by-同舟云学术

A diagnostic protocol for adult-onset glycogen storage disease type II

Published:1999-03-01 Issue:4 Volume:52 Page:851-851
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Ausems M.G. E. M.,Lochman P.,van Diggelen O.P.,van Amstel H.K. Ploos,Reuser A.J. J.,Wokke J.H. J.

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

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