Acid Sphingomyelinase Deficiency Ameliorates Farber Disease

Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan. We have recently reported a novel acid ceramidase d...

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Pubblicato in:Int J Mol Sci
Autori principali: Beckmann, Nadine, Becker, Katrin Anne, Kadow, Stephanie, Schumacher, Fabian, Kramer, Melanie, Kühn, Claudine, Schulz-Schaeffer, Walter J., Edwards, Michael J., Kleuser, Burkhard, Gulbins, Erich, Carpinteiro, Alexander
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6941101/
https://ncbi.nlm.nih.gov/pubmed/31835809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20246253
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