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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Detalles Bibliográficos
Autores principales: Yu, Fabian P. S., Amintas, Samuel, Levade, Thierry, Medin, Jeffrey A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053731/
https://www.ncbi.nlm.nih.gov/pubmed/30029679
http://dx.doi.org/10.1186/s13023-018-0845-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053731/
https://www.ncbi.nlm.nih.gov/pubmed/30029679
http://dx.doi.org/10.1186/s13023-018-0845-z

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