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Acid ceramidase deficiency: Farber disease and SMA-PME
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 ASAH1 ge...
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| Udgivet i: | Orphanet J Rare Dis |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6053731/ https://ncbi.nlm.nih.gov/pubmed/30029679 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0845-z |
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