Ontology highlight
ABSTRACT:
SUBMITTER: Paciotti S
PROVIDER: S-EPMC7073989 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Paciotti Silvia S Albi Elisabetta E Parnetti Lucilla L Beccari Tommaso T
Journal of clinical medicine 20200221 2
Ceramides are a family of bioactive lipids belonging to the class of sphingolipids. Sphingolipidoses are a group of inherited genetic diseases characterized by the unmetabolized sphingolipids and the consequent reduction of ceramide pool in lysosomes. Sphingolipidoses include several disorders as Sandhoff disease, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, Niemann Pick disease, Farber disease, and GM2 gangliosidosis. In sphingolipidosis, lysosomal lipid storage ...[more]