Acid ceramidase deficiency: Farber disease and SMA-PME

Acid ceramidase deficiency: Farber disease and SMA-PME

Abstract Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Both disorders are caused by mutations in the...

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Bibliographic Details
Main Authors: Fabian P. S. Yu, Samuel Amintas, Thierry Levade, Jeffrey A. Medin
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ceramide
Lysosomal storage disorder
SMA-PME
Sphingolipid
Lysosome
Neuromuscular disease
Online Access:http://link.springer.com/article/10.1186/s13023-018-0845-z

Internet

http://link.springer.com/article/10.1186/s13023-018-0845-z

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