Ugalde Altamirano, JessicaRovira Juárez, JordiCampistol Plana, Josep M.Lozano, MiquelCid Vidal, JoanPiñeiro, Gastón JulioRamirez, Maria JoseCorral Velez, VicenteRevuelta, IgnacioRoca, RamonCalls, JordiTorregrosa Prats, José Vicente2025-01-082025-01-082024-05-011460-2385https://hdl.handle.net/2445/217315Comunicació/presentació a: 61st ERA Congress, The European Renal Association, Estocolm, 23-26 maig 2024Fabry’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.1 p.application/pdfeng(c) Ugalde Altamirano, Jessica et al., 2024Malaltia de FabryTerapèuticaFabry's diseaseTherapeuticsinfo:eu-repo/semantics/conferenceObject2024-12-13info:eu-repo/semantics/openAccess