Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort
This study highlights the role of <i>GLA</i> genotype in shaping cardiovascular risk and clinical trajectory in AFD. Integrating genetic classification with clinical staging provides a powerful, multimodal approach to risk stratification and supports the move toward genotype-informed, personalized management strategies in AFD.
Authors
- Denise Cristiana Faro (ORCID: https://orcid.org/0000-0002-6568-6176)
- Margherita Stefania Rodolico (ORCID: https://orcid.org/0000-0002-6878-9779)
- Ines Monte (ORCID: https://orcid.org/0000-0001-7059-7525)
- Valentina Losi (ORCID: https://orcid.org/0000-0001-9328-4417)
- Davide Capodanno (ORCID: https://orcid.org/0000-0002-5156-7723)
- Sara De Salvo
Institutions
- University of Catania (IT)
- Policlinico Universitario di Catania (IT)
- Institute for Biomedical Research and Innovation (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-09-15
- DOI
- https://doi.org/10.3390/genes16091086
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16