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An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond
Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to excessive accumulation of lysosomal glycogen primarily in the cardiac, skeletal, and smooth muscles. There is growing evidence of...
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| Publicado no: | Ann Transl Med |
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| Main Authors: | , , , |
| 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/PMC6642933/ https://ncbi.nlm.nih.gov/pubmed/31392201 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.04.49 |
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