Article
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Scientific reports - 21 Jul 2017
Cozma Claudia, Iurașcu Marius-Ionuț, Eichler Sabrina, Hovakimyan Marina, Brandau Oliver, Zielke Susanne, Böttcher Tobias, Giese Anne-Katrin, Lukas Jan, Rolfs Arndt
Abstract excerpt
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, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the...
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