What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview
Abstract Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rhe...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-03-01
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| Series: | Advances in Rheumatology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s42358-024-00362-2 |