# metadata.dc.description[].value
Comunicació/presentació a: 61st ERA Congress, The European Renal Association, Estocolm, 23-26 maig 2024

# metadata.dc.description.abstract[].value
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.

# metadata.dc.relation.ispartof[].value
Nephrology Dialysis Transplantation, 2024, vol. 39, sup. 1, p. i451

# metadata.dc.rights[].value
(c) Ugalde Altamirano, Jessica et al., 2024

# metadata.dc.source[].value
Comunicacions a congressos (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))