FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac, and cerebrovascular manifestations and early dea...
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| Principais autores: | , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS)
2020-01-01
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| Serija: | Clinical and Biomedical Research |
| Teme: | |
| Online dostop: | https://seer.ufrgs.br/index.php/hcpa/article/view/99975 |
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