Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease
Severely affected females with FD who were treated with ERT, and less severely affected untreated females, showed a broadly stable disease course over 5 years. The treatment decisions were largely based on the European guidelines for FD. In untreated females, it is crucial to explore if organ involvement is FD-related in order to make the correct treatment decision.
Authors
- Albina Nowak (ORCID: https://orcid.org/0000-0002-4119-5516)
- Jessica Kaufeld (ORCID: https://orcid.org/0000-0001-7718-3464)
- Nicole Muschol (ORCID: https://orcid.org/0000-0003-4213-7294)
- Markus Cybulla (ORCID: https://orcid.org/0000-0001-7414-3096)
- Christine Kurschat (ORCID: https://orcid.org/0000-0002-3646-9471)
- Malte Lenders (ORCID: https://orcid.org/0000-0001-8409-2886)
- Anja Köhn
- Eva Brand (ORCID: https://orcid.org/0009-0004-3243-5508)
Institutions
- Universität Hamburg (DE)
- University of Cologne (DE)
- Medizinische Hochschule Hannover (DE)
- University Hospital Münster (DE)
- University Medical Center Hamburg-Eppendorf (DE)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-27
- DOI
- https://doi.org/10.1186/s13023-024-03503-4
- Citations
- 7
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.29