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Pompe disease: what are we missing?

Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. Furthermore, autophagic buildup, organelle abnormalities, a...

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書目詳細資料
發表在:Ann Transl Med
主要作者: Schoser, Benedikt
格式: Artigo
語言:Inglês
出版: AME Publishing Company 2019
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642932/
https://ncbi.nlm.nih.gov/pubmed/31392204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.05.29
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