Homozygous <i>GBA1</i> p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization
This report provides the first comprehensive clinical characterization of the rare GBA1 p.Thr82Ile variant, expanding the phenotypic spectrum of Type 1 GD.
Authors
- Selin Genç (ORCID: https://orcid.org/0000-0001-5525-3476)
- Filiz Mercantepe (ORCID: https://orcid.org/0000-0002-4325-1534)
- Bayram Fahri
Institutions
- Recep Tayyip Erdoğan University (TR)
- State Hospital (GB)
- Erciyes University (TR)
Publication Details
- Journal
- Personalized Medicine
- Published
- 2025-11-02
- DOI
- https://doi.org/10.1080/17410541.2025.2607958
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00