{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T18:50:19Z","timestamp":1792263019999,"version":"4.4.0"},"reference-count":47,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_cclm-2019-0949_s_999_w2aab3b8c77b1b7b1aab1c17b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Gaucher disease (GD), caused by a deficiency in acid \u03b2-glucosidase, leads to the accumulation of glucosylsphingosine (GluSph), which has been used as a powerful biomarker for the diagnosis and follow-up of GD. Our aim was to perform the first retrospective study of GluSph in Spanish patients, analyzing its relationship with classical biomarkers and other parameters of disease and its utility regarding treatment monitoring.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2019-0949_s_998_w2aab3b8c77b1b7b1aab1c17b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Classical biomarkers were evaluated retrospectively by standard methods in a total of 145 subjects, including 47 GD patients, carriers, healthy controls and patients suffering from other lysosomal lipidoses. GluSph was also measured using a liquid chromatography-tandem mass spectrometry (LC-MS\/MS) method developed as part of the present study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2019-0949_s_997_w2aab3b8c77b1b7b1aab1c17b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The optimized method presented intra- and inter-assay variations of 3.1 and 11.5%, respectively, overall recovery higher than 96% and linearity up to plasma concentrations of 1000 ng\/mL with 100% specificity and sensitivity. Only GD patients displayed GluSph levels above 5.4 ng\/mL at diagnosis and this was significantly correlated with the classical biomarkers chitotriosidase (r\u2009=\u20090.560) and the chemokine CCL18\/PARC (CCL18\/PARC) (\u03c1\u2009=\u20090.515), as well as with the Spanish magnetic resonance imaging index (S-MRI, r\u2009=\u20090.364), whereas chitotriosidase correlated with liver volume (r\u2009=\u20090.372) and CCL18\/PARC increased in patients with bone manifestations (p\u2009=\u20090.005). GluSph levels decreased with treatment in na\u00efve patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2019-0949_s_996_w2aab3b8c77b1b7b1aab1c17b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Plasma GluSph is the most disease-specific biomarker for GD with demonstrated diagnostic value and responsiveness to therapy. GluSph in the present series of patients failed to demonstrate better correlations with clinical characteristics at onset than classical biomarkers.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/cclm-2019-0949","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T09:02:07Z","timestamp":1583226127000},"page":"798-809","source":"Crossref","is-referenced-by-count":19,"title":["LC-MS\/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population"],"prefix":"10.1515","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3392-7200","authenticated-orcid":false,"given":"Pilar","family":"Ir\u00fan","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBEREHD), Instituto de Salud Carlos III (ISCIII) , Zaragoza , Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n) , Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8727-9179","authenticated-orcid":false,"given":"Jorge J.","family":"Cebolla","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n) , Zaragoza , Spain"},{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Facultad de Ciencias , Universidad de Zaragoza , Zaragoza , Spain"},{"name":"Fundaci\u00f3n Espa\u00f1ola para el Estudio y Terap\u00e9utica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) , Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1369-6225","authenticated-orcid":false,"given":"Laura","family":"L\u00f3pez de Frutos","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n) , Zaragoza , Spain"},{"name":"Fundaci\u00f3n Espa\u00f1ola para el Estudio y Terap\u00e9utica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) , Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4299-7163","authenticated-orcid":false,"given":"Isabel","family":"De Castro-Or\u00f3s","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Facultad de Ciencias , Universidad de Zaragoza , Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Roca-Espiau","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Espa\u00f1ola para el Estudio y Terap\u00e9utica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) , Zaragoza , Spain"},{"name":"Centro de Diagn\u00f3stico por Imagen Dra Roca , Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Giraldo","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n) , Zaragoza , Spain"},{"name":"Fundaci\u00f3n Espa\u00f1ola para el Estudio y Terap\u00e9utica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) , Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"key":"2023033110384933005_j_cclm-2019-0949_ref_001_w2aab3b8c77b1b7b1ab2b2b1Aa","unstructured":"Beutler E,  Grabowski GA. 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