Different and unusual presentation of Gaucher’s disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report
This report highlights the importance of recognizing the unusual presentation of Gaucher's disease especially in regions with high rates of consanguineous marriage and thalassemia. This knowledge can aid physicians in making accurate diagnoses and providing appropriate treatment.
Authors
- Bijan Keikhaei (ORCID: https://orcid.org/0000-0002-3087-7650)
- Ladan Mafakher (ORCID: https://orcid.org/0000-0003-3767-9769)
Institutions
- Ahvaz Jundishapur University of Medical Sciences (IR)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1186/s13256-024-04902-8
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Ahvaz Jundishapur University of Medical Sciences