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Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder due to mutations in the gene encoding for alpha-galactosidase A, with subsequent accumulation of complex sphingolipids in multiple organs, including the heart. Female heterozygotes can develop cardiac involvement although this is us...
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| Udgivet i: | Eur Heart J Case Rep |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6426117/ https://ncbi.nlm.nih.gov/pubmed/31020198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ehjcr/yty122 |
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