Diagnosing Lysosomal Storage Disorders: Pompe Disease
Abstract
Pompe disease is a lysosomal storage disorder caused by a deficiency of acid alpha glucosidase (GAA). Diagnosis of Pompe disease is typically based on an enzyme analysis of blood or tissues, such as fibroblasts, followed by confirmation through molecular testing. The advent of fluorometric and mass spectrometry methods for enzyme analysis in dried blood spots (DBS) has simplified the diagnostic approach for Pompe disease, facilitating...
Paper Details
Title
Diagnosing Lysosomal Storage Disorders: Pompe Disease
Published Date
Oct 1, 2012
Volume
75
Issue
1
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