ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-...

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Udgivet i:Eur J Hum Genet
Main Authors: Filosto, Massimiliano, Aureli, Massimo, Castellotti, Barbara, Rinaldi, Fabrizio, Schiumarini, Domitilla, Valsecchi, Manuela, Lualdi, Susanna, Mazzotti, Raffaella, Pensato, Viviana, Rota, Silvia, Gellera, Cinzia, Filocamo, Mirella, Padovani, Alessandro
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110045/
https://ncbi.nlm.nih.gov/pubmed/27026573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.28
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