Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement therapy
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction. The clinical manifestations of FD are diverse and non-specific. In the present study, we report a...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-11-01
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| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2024.1479374/full |
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