Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre
This study highlights the clinical burden of FD, particularly among males with the c.644 A > G (p.N215S) variant. The frequent presence of cardiometabolic risk factors in patients with adverse outcomes reinforces the importance of early diagnosis, comprehensive risk evaluation, and individualised management to improve long-term prognosis.
Authors
- Karolina M. Stępień (ORCID: https://orcid.org/0000-0003-0148-6332)
- Thomas L. Anderson (ORCID: https://orcid.org/0000-0001-7479-2192)
- Éamon P McCarron (ORCID: https://orcid.org/0000-0003-3387-9210)
- Ana Jovanović (ORCID: https://orcid.org/0000-0002-1523-6580)
- Peter Woolfson
- Reena Sharma (ORCID: https://orcid.org/0000-0003-3334-8081)
- Rajkumar Chinnadurai (ORCID: https://orcid.org/0000-0003-3973-6595)
- Jonathan M. Meyer (ORCID: https://orcid.org/0000-0001-7294-4834)
Institutions
- Manchester Academic Health Science Centre (GB)
- Salford Royal NHS Foundation Trust (GB)
- University of Manchester (GB)
- Bradford District Care NHS Foundation Trust (GB)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-05-14
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101229
- Citations
- 6
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 6.99