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Diagnostic tools in late onset Pompe disease (LOPD)

Pompe disease is a rare metabolic disorder due to deficiency of the lysosomal acid alpha-glucosidase (GAA) that causes glycogen accumulation in all tissues with a predominant involvement of skeletal muscle. The late onset form of Pompe disease (LOPD) is characterized by a progressive weakness of pro...

詳細記述

保存先:
書誌詳細
出版年:Ann Transl Med
主要な著者: Musumeci, Olimpia, Toscano, Antonio
フォーマット: Artigo
言語:Inglês
出版事項: AME Publishing Company 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642940/
https://ncbi.nlm.nih.gov/pubmed/31392198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.06.60
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