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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: makay b. 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.
Chanarin-dorfman syndrome with multi-system involvement in two siblings.
Arslansoyu Çamlar S, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Emre Dökmeci S, Anal O, Köse G. Arslansoyu Çamlar S, et al. Among authors: makay b. Turk J Haematol. 2013 Mar;30(1):72-5. doi: 10.4274/tjh.93798. Epub 2013 Mar 5. Turk J Haematol. 2013. PMID: 24385758 Free PMC article.
80 results