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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-018-0845-z |