{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:30:09Z","timestamp":1790713809771,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,8]],"date-time":"2016-08-08T00:00:00Z","timestamp":1470614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["AR 65932"],"award-info":[{"award-number":["AR 65932"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>Gaucher disease (GD) involves the accumulation of glucosylceramide (GL1) and its deacylated lysolipid, glucosylsphingosine (lyso\u2010GL1) which is implicated in mediating immune dysregulation and skeletal disease. The aim of our study was to assess plasma Lyso\u2010GL1 as a biomarker of GD and its response to therapy.<\/jats:p><jats:p>Plasma lyso\u2010GL1 in 169 patients with GD type 1 (GD1) was measured by LC\u2010MS\/MS. Significant predictors of plasma LGL1 were assessed by Pearson's correlation coefficient, Wilcoxon Mann Whitney test and multiple linear regression. Propensity scores were used to match patients on treatment mode: Enzyme Replacement Therapy (ERT) vs. Eliglustat Tartrate SRT (ELI\u2010SRT).<\/jats:p><jats:p>Plasma Lyso\u2010GL1 levels in healthy controls averaged 1.5 ng\/ml (1.3\u20131.7; 95% CI). In untreated GD patients, the levels were massively elevated (180.9 ng\/ml: 95% CI, 145.4\u2013216.5) and imiglucerase ERT resulted in marked reduction (89 ng\/ml: 95% CI, 69.2\u2013129.4) (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Lyso\u2010GL1 correlated with chitotriosidase (<jats:italic>r<\/jats:italic>\u2009=\u20090.59 <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), CCL18 (<jats:italic>r<\/jats:italic>\u2009=\u20090.62 <jats:italic>P<\/jats:italic> &lt;0.001), hepatomegaly (<jats:italic>r<\/jats:italic>\u2009=\u20090.28 <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), splenomegaly (<jats:italic>r<\/jats:italic>\u2009=\u20090.27 <jats:italic>P<\/jats:italic>\u2009=\u20090.003), splenectomy (<jats:italic>P<\/jats:italic>\u2009=\u20090.01) and treatment mode (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). By multiple linear regression, the strongest predictors of lyso\u2010GL1 were age (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), splenectomy (<jats:italic>P<\/jats:italic>\u2009=\u20090.02), Chitotriosidase (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) and CCL18 levels (<jats:italic>P<\/jats:italic>\u2009=\u20090.001). After propensity score matching to obtain comparable groups of patients on ERT vs ELI\u2010SRT, lyso\u2010GL1 levels were lower among patients receiving ELI\u2010SRT by 113 ng\/ml (95% CI: 136\u201390.3 ng\/ml <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001).<\/jats:p><jats:p>Plasma lyso\u2010GL1 is a key biomarker of GD. ERT reduced lyso\u2010GL1 levels. By propensity scoring, ELI\u2010SRT resulted in greater reduction of lyso\u2010GL1 than ERT. Am. J. Hematol. 91:1082\u20131089, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.24491","type":"journal-article","created":{"date-parts":[[2016,7,21]],"date-time":"2016-07-21T16:56:40Z","timestamp":1469120200000},"page":"1082-1089","source":"Crossref","is-referenced-by-count":189,"title":["Glucosylsphingosine is a key biomarker of Gaucher disease"],"prefix":"10.1002","volume":"91","author":[{"given":"Vagishwari","family":"Murugesan","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Yale University School of Medicine New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei\u2010Lien","family":"Chuang","sequence":"additional","affiliation":[{"name":"Sanofi Genzyme Framingham Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Yale University School of Medicine New Haven 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