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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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| Publicado no: | Ann Transl Med |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2019
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| Assuntos: | |
| Acesso em linha: | 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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