Status and frontiers of Fabre disease
Abstract Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decrease...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03646-y |
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