Articles tagged with C26-Ceramide
The new biomarker can be determined directly in the dried blood spot (DBS) extract with low sample consumption, easy sample preparation, high reproducibility and it presents the possibility of being used in high throughput screenings.
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…