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Glycogen Storage Disease
New findings from A. Dajnoki and co-authors in the area of glycogen storage disease published
December 18th, 2008
According to recent research published in the journal Clinical Chemistry, "Pompe disease, caused by the deficiency of acid a-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the first months of life. Early detection by newborn screening is warranted, since prompt initiation of enzyme replacement therapy may improve morbidity and mortality." "We evaluated a tandem mass spectrometry (MS/MS) method to measure GAA activity for newborn screening for Pompe disease. We incubated 3.2-mm punches from dried blood spots (DBS) for 22 h with the substrate...
Source: Gene Therapy Weekly (2008-12-18)
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