C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

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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Bibliographic Details
Main Authors: Claudia Cozma, Marius-Ionuț Iurașcu, Sabrina Eichler, Marina Hovakimyan, Oliver Brandau, Susanne Zielke, Tobias Böttcher, Anne-Katrin Giese, Jan Lukas, Arndt Rolfs
Format: Article
Language:English
Published: Nature Publishing Group 2017-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-06604-2

Internet

https://doi.org/10.1038/s41598-017-06604-2

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