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Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

15 Sept 2011

Abstract excerpt

Pompe disease is caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene, which encodes GAA. Although enzyme replacement therapy has recently improved patient survival greatly, the results in skeletal muscles and for advanced disease are still not satisfactory. Here, we report the derivation of Pompe disease-induced pluripotent stem cells (PomD-iPSCs) from two patients with different GAA...

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PMID: 21926084
DOI: 10.1093/hmg/ddr424

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