Please use this identifier to cite or link to this item:
https://hdl.handle.net/2445/217315
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DC Field | Value | Language |
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dc.contributor.author | Ugalde Altamirano, Jessica | - |
dc.contributor.author | Rovira Juárez, Jordi | - |
dc.contributor.author | Campistol Plana, Josep M. | - |
dc.contributor.author | Lozano, Miquel | - |
dc.contributor.author | Cid Vidal, Joan | - |
dc.contributor.author | Piñeiro, Gastón Julio | - |
dc.contributor.author | Ramirez, Maria Jose | - |
dc.contributor.author | Corral Velez, Vicente | - |
dc.contributor.author | Revuelta, Ignacio | - |
dc.contributor.author | Roca, Ramon | - |
dc.contributor.author | Calls, Jordi | - |
dc.contributor.author | Torregrosa Prats, José Vicente | - |
dc.date.accessioned | 2025-01-08T12:26:49Z | - |
dc.date.available | 2025-01-08T12:26:49Z | - |
dc.date.issued | 2024-05-01 | - |
dc.identifier.issn | 1460-2385 | - |
dc.identifier.uri | https://hdl.handle.net/2445/217315 | - |
dc.description | Comunicació/presentació a: 61st ERA Congress, The European Renal Association, Estocolm, 23-26 maig 2024 | - |
dc.description.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. | - |
dc.format.extent | 1 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Oxford University Press (OUP) | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1093/ndt/gfae069.264 | - |
dc.relation.ispartof | Nephrology Dialysis Transplantation, 2024, vol. 39, sup. 1, p. i451 | - |
dc.relation.uri | https://doi.org/10.1093/ndt/gfae069.264 | - |
dc.rights | (c) Ugalde Altamirano, Jessica et al., 2024 | - |
dc.source | Comunicacions a congressos (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malaltia de Fabry | - |
dc.subject.classification | Terapèutica | - |
dc.subject.other | Fabry's disease | - |
dc.subject.other | Therapeutics | - |
dc.title | Therapeutic apheresis in Fabry disease | - |
dc.type | info:eu-repo/semantics/conferenceObject | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2024-12-13T10:13:23Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
Appears in Collections: | Comunicacions a congressos (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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gfae069-0264-3006.pdf | 94.69 kB | Adobe PDF | View/Open |
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