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Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease()
BACKGROUND/AIMS: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to hi...
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| Publicado no: | Mol Genet Metab Rep |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5121270/ https://ncbi.nlm.nih.gov/pubmed/27905573 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2013.10.002 |
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