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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. Elsea SH, et al. Among authors: sundberg e. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32449975
High systemic levels of the cytokine-inducing HMGB1 isoform secreted in severe macrophage activation syndrome.
Palmblad K, Schierbeck H, Sundberg E, Horne AC, Harris HE, Henter JI, Antoine DJ, Andersson U. Palmblad K, et al. Among authors: sundberg e. Mol Med. 2015 Jan 27;20(1):538-47. doi: 10.2119/molmed.2014.00183. Mol Med. 2015. Retraction in: Mol Med. 2020 Dec 30;26(1):131. doi: 10.1186/s10020-020-00263-2 PMID: 25247290 Free PMC article. Retracted.
221 results