| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833509 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠Some adults with Pompe disease have very low GAA activity in fibroblasts. ⺠These patients do not carry the most common mutation c.-32-13 T > G. ⺠Compared to classic-infantile patients they express higher GAA activity in muscle. ⺠Higher activity in muscle might explain the slowly progressive disease course. ⺠Different fibroblast and muscle activities are due to cell-type-specific processing.
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Authors
Stephan C.A. Wens, Marian A. Kroos, Juna M. de Vries, Marianne Hoogeveen-Westerveld, Mark G.J.M. Wijgerde, Pieter A. van Doorn, Ans T. van der Ploeg, Arnold J.J. Reuser,