{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T20:18:49Z","timestamp":1792095529932,"version":"4.4.0"},"reference-count":21,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T00:00:00Z","timestamp":1561075200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher disease (GD) has not yet been studied. We reviewed the clinical charts of 81 children (&lt;18 years), 35 with mild type 1 GD (GD1), 34 with severe GD1 and 12 with type 3 GD (GD3), followed at Shaare Zedek Medical Center between 2014\u20132018. Disease severity for GD1 was based on genotypes. Forty children (87%) with severe GD1 and GD3 received enzyme replacement therapy (ERT) compared to two children (6%) with mild GD1. Lyso-Gb1 measurements were conducted on dried blood spot samples taken at each clinic visit. Lyso-Gb1 levels were significantly lower in children with mild compared to severe GD1 (p = 0.009). In untreated children, lyso-Gb1 levels were inversely correlated with platelet counts. During follow-up, lyso-Gb1 increased in almost 50% of untreated children, more commonly in younger children. In treated children, lyso-Gb1 levels were inversely correlated with hemoglobin levels. The increase of lyso-Gb1 while receiving ERT, seen in eight children, was partly associated with compliance and weight gain. Lyso-Gb1 seems to be a useful biomarker for monitoring children with GD and should be included in the routine follow-up. Progressive increase in lyso-Gb1 levels in untreated children suggests ERT initiation.<\/jats:p>","DOI":"10.3390\/ijms20123033","type":"journal-article","created":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T11:54:31Z","timestamp":1561118071000},"page":"3033","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":67,"title":["Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease"],"prefix":"10.3390","volume":"20","author":[{"given":"Noa","family":"Hurvitz","sequence":"first","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tama","family":"Dinur","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Becker-Cohen","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Cozma","sequence":"additional","affiliation":[{"name":"Centogene AG, Rostock 18055, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Hovakimyan","sequence":"additional","affiliation":[{"name":"Centogene AG, Rostock 18055, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Oppermann","sequence":"additional","affiliation":[{"name":"Centogene AG, Rostock 18055, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Demuth","sequence":"additional","affiliation":[{"name":"Centogene AG, Rostock 18055, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"Centogene AG, Rostock 18055, Germany"},{"name":"Faculty of Medicine, University of Rostock, Rostock 18051, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Abramov","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0077-8608","authenticated-orcid":false,"given":"Ari","family":"Zimran","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9151-0337","authenticated-orcid":false,"given":"Shoshana","family":"Revel-Vilk","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,6,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/bjh.15402","article-title":"How we manage Gaucher Disease in the era of choices","volume":"182","author":"Szer","year":"2018","journal-title":"Br. 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