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https://hdl.handle.net/2445/217315| Title: | Therapeutic apheresis in Fabry disease |
| Author: | Ugalde Altamirano, Jessica Rovira Juárez, Jordi Campistol Plana, Josep M. Lozano, Miquel Cid Vidal, Joan Piñeiro, Gastón Julio Ramirez, Maria Jose Corral Velez, Vicente Revuelta, Ignacio Roca, Ramon Calls, Jordi Torregrosa Prats, José Vicente |
| Keywords: | Malaltia de Fabry Terapèutica Fabry's disease Therapeutics |
| Issue Date: | 1-May-2024 |
| Publisher: | Oxford University Press (OUP) |
| Abstract: | Fabry’s disease (FD) is a rare lysosomal disorder linked to the X chromosome due to a mutation in the gene encoding alpha-galactosidase A (alpha-Gal A). This mutation leads to a defect in the metabolism of glycosphingolipids, causing the progressive accumulation of globotriaacylceramide (GB3) or LysoGB3 in cells, tissues, and organs. In the treatment of FD, we have enzyme replacement therapy (ERT) with Agalsidase-alfa (Replagal®), Agalsidase-beta (Fabrazyme®), and chaperones (Migalastat®). However, there are limitations such as disease progression and morbimortality. |
| Note: | Comunicació/presentació a: 61st ERA Congress, The European Renal Association, Estocolm, 23-26 maig 2024 |
| Note: | Versió postprint del document publicat a: https://doi.org/10.1093/ndt/gfae069.264 |
| It is part of: | Nephrology Dialysis Transplantation, 2024, vol. 39, sup. 1, p. i451 |
| URI: | https://hdl.handle.net/2445/217315 |
| Related resource: | https://doi.org/10.1093/ndt/gfae069.264 |
| ISSN: | 1460-2385 |
| Appears in Collections: | Comunicacions a congressos (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| gfae069-0264-3006.pdf | 94.69 kB | Adobe PDF | View/Open |
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