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Autophagy in skeletal muscle: implications for Pompe disease

Pompe disease is caused by an inherited deficiency of acid α-glucosidase (GAA), a lysosomal enzyme that catalyzes the breakdown of glycogen to glucose. In the absence of GAA, enlarged, glycogen-laden lysosomes accumulate in multiple tissues, although the major clinical manifestations are seen in car...

詳細記述

保存先:
書誌詳細
主要な著者: Shea, L., Raben, N.
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948975/
https://ncbi.nlm.nih.gov/pubmed/20040311
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