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Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, Gardner-Medwin J, Dagher R, Terreri MT, Lorenco CM, Barillas-Arias L, Tanpaiboon P, Solyom A, Norris JS, He X, Schuchman EH, Levade T, Medin JA. Dworski S, et al. Among authors: schuchman eh. Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):386-394. doi: 10.1016/j.bbadis.2016.11.031. Epub 2016 Dec 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27915031 Free PMC article.
241 results