Acid Ceramidase Deficiency is Characterized by a Unique Plasma Cytokine and Ceramide Profile that is Altered by Therapy

Acid Ceramidase Deficiency (Farber Disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The...

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Publicado no:Biochim Biophys Acta Mol Basis Dis
Main Authors: Dworski, Shaalee, Lu, Ping, Khan, Aneal, Maranda, Bruno, Mitchell, John J., Parini, Rossella, Di Rocco, Maja, Hugle, Boris, Yoshimitsu, Makoto, Magnusson, Bo, Makay, Balahan, Arslan, Nur, Guelbert, Norberto, Ehlert, Karoline, Jarisch, Andrea, Gardner-Medwin, Janet, Dagher, Rawane, Terreri, Maria Teresa, Lorenco, Charles Marques, Barillas-Arias, Lilianna, Tanpaiboon, Pranoot, Solyom, Alexander, Norris, James S., He, Xingxuan, Schuchman, Edward H., Levade, Thierry, Medin, Jeffrey A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7192210/
https://ncbi.nlm.nih.gov/pubmed/27915031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2016.11.031
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