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- W1998670393 abstract "The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-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 alpha-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." @default.
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- W1998670393 date "2007-04-01" @default.
- W1998670393 modified "2023-10-16" @default.
- W1998670393 title "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots" @default.
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- W1998670393 doi "https://doi.org/10.1016/j.ymgme.2006.12.006" @default.
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