C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
Abstract Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swolle...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2017
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| Accès en ligne: | https://doaj.org/article/a267cbff6a5140b1bcde5f0b575397b9 |
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