Article
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Muscle & nerve - 1 May 2011
Bali Deeksha S, Tolun Adviye A, Goldstein Jennifer L, Dai Jian, Kishnani Priya S
Abstract excerpt
INTRODUCTION: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). A few late-onset patients have been reported with skin fibroblast GAA activity levels of <2%. METHODS: We measured GAA activity in skin fibroblasts from 101 patients with late-onset Pompe disease. Whenever possible, we performed Western blot analysis and correlated...
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