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Progress in the understanding and treatment of Fabry disease
BACKGROUND: Fabry disease is caused by α-galactosidase A deficiency. Substrates of this lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience neuropathic pain, kidney failure, heart disease, and strokes. SCOPE OF REVIEW: The clinical picture and molecular features of Fa...
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| Publicado no: | Biochim Biophys Acta Gen Subj |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6981246/ https://ncbi.nlm.nih.gov/pubmed/31526868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbagen.2019.129437 |
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