Article
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
Human mutation - 1 Mar 2001
Bär J, Linke T, Ferlinz K, Neumann U, Schuchman E H, Sandhoff K
Abstract excerpt
Farber disease is a rare, autosomal recessively inherited sphingolipid storage disorder due to the deficient activity of lysosomal acid ceramidase, leading to the accumulation of ceramide in cells and tissues. Here we report the identification of six novel mutations in the acid ceramidase gene causing Farber disease: three point mutations resulting in single amino acid substitutions, one intronic splice site...
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