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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...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Musumeci, Olimpia, Toscano, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2019
Assuntos:
Acesso em linha: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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