Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

@article{Bali2011MolecularAA,
  title={Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.},
  author={Deeksha Bali and Adviye A. Tolun and Jennifer L. Goldstein and Jian Feng Dai and Priya Kishnani},
  journal={Muscle & nerve},
  year={2011},
  volume={43 5},
  pages={665-70}
}
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 the results with GAA activity and GAA gene mutations. RESULTS Thirteen patients… CONTINUE READING

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