WCN25-1917 EXPANDING THE PHENOTYPIC SPECTRUM OF FABRY DISEASE: A CASE OF RENAL INVOLVEMENT IN A CARDIAC VARIANT
Fabry's disease is a rare hereditary lysosomal storage disorder linked to the X chromosome, resulting from a deficiency of the enzyme α-galactosidase A. This deficiency leads to the accumulation of the neutral glycosphingolipid globotriaosylceramide (GL-3) in various organs.
Authors
- D. Zellama
- Olfa Mahfoudh
- W. Sahtout
- A. Azzabi (ORCID: https://orcid.org/0000-0001-8445-0719)
- Y. Guedri
- S. Mrabet (ORCID: https://orcid.org/0000-0002-9552-3650)
- Raja Boukadida
- Rihem Dahmane (ORCID: https://orcid.org/0009-0003-6212-9790)
- Narjes Ben Aicha
- R. Farhat
- Yosra Zmantar
- Nehed Ghenam
Institutions
- Hôpital Sahloul (TN)
- University of Sousse (TN)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-01-27
- DOI
- https://doi.org/10.1016/j.ekir.2024.11.1063
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16