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Product

a Retrospective, Multinational, Multicenter Study on the Natural History of Infantile-Onset Pompe Disease

Center:

NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND

Fiscal Year:

2007

Contact Information:

Product Description:

The enzymatic defect in Pompe disease is insufficient lysosomal acid α-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective α-glucosidase inhibitor, to eliminate isoenzyme interference. Here we demonstrate that this method efficiently detects late-onset Pompe patients who are frequently misdiagnosed by conventional methods due to residual GAA activity in other tissue types.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Consumers/Families, Professionals, Students

Alternative Format:

To Obtain Copies (URL or Email):

COVID-19 Related Data:

N/A

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