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

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 pai...

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Detalles Bibliográficos
Autores principales: Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522391/
https://www.ncbi.nlm.nih.gov/pubmed/28733637
http://dx.doi.org/10.1038/s41598-017-06604-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522391/
https://www.ncbi.nlm.nih.gov/pubmed/28733637
http://dx.doi.org/10.1038/s41598-017-06604-2

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