{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:30:27Z","timestamp":1791304227865,"version":"4.3.1"},"reference-count":46,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Lysosphingolipids (LysoSLs) are derivatives of sphingolipids which have lost the amide-linked acyl chain. More recently, LysoSLs have been identified as storage compounds in several sphingolipidoses, including Gaucher, Fabry and Niemann-Pick diseases. To date, different methods have been developed to measure each individual lysosphingolipid in plasma. This report describes a rapid liquid chromatography coupled with tandem mass spectrometry (LC-MS\/MS) assay for simultaneous quantification of several LysoSLs in plasma.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We analyzed the following compounds: hexosylsphingosine (HexSph), globotriaosylsphingosine (LysoGb3), lysosphingomyelin (LysoSM) and lysosphingomyelin-509 (LysoSM-509). The sample preparation requires only 100 \u03bcL of plasma and consists of an extraction with a mixture of MeOH\/acetone\/H<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The method validation showed high sensitivity, an excellent accuracy and precision. Reference ranges were determined in healthy adult and pediatric population. The results demonstrate that the LC-MS\/MS method can quantify different LysoSLs and can be used to identify patients with Fabry (LysoGb3), Gaucher and Krabbe (HexSph) diseases, prosaposine deficiency (LysoGb3 and HexSph), and Niemann-Pick disease types A\/B and C (LysoSM and LysoSM-509).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This LC-MS\/MS method allows a rapid and simultaneous quantification of LysoSLs and is useful as a biochemical diagnostic tool for sphingolipidoses.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/cclm-2016-0340","type":"journal-article","created":{"date-parts":[[2017,2,5]],"date-time":"2017-02-05T05:03:35Z","timestamp":1486271015000},"source":"Crossref","is-referenced-by-count":109,"title":["Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS\/MS"],"prefix":"10.1515","volume":"55","author":[{"given":"Giulia","family":"Polo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro P.","family":"Burlina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thilini B.","family":"Kolamunnage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Zampieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Strisciuglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Zaninotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0270-1711","authenticated-orcid":false,"given":"Mario","family":"Plebani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto B.","family":"Burlina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref221","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13023-016-0413-3","article-title":"Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients","volume":"11","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.cca.2014.08.002","article-title":"Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry","volume":"438","year":"2015","journal-title":"Clin Chim Acta"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature13476","article-title":"Sphingolipid lysosomal storage disorders","volume":"510","year":"2014","journal-title":"Nature"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.bbalip.2013.10.015","article-title":"Sphingolipids and lysosomal pathologies","volume":"1841","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","year":"2008","journal-title":"Proc Natl Acad Sci"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13023-015-0274-1","article-title":"A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease","volume":"10","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.cca.2013.01.017","article-title":"Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease","volume":"419","year":"2013","journal-title":"Clin Chim Acta"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.bcmd.2015.01.006","article-title":"Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard","volume":"54","year":"2015","journal-title":"Blood Cells Mol Dis"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0022-2275(20)37736-1","article-title":"Analysis of galactosylsphingosine (psychosine) in the brain","volume":"25","year":"1984","journal-title":"J Lipid Res"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2013.11.012","article-title":"Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients","volume":"111","year":"2014","journal-title":"Mol Genet Metab"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1194\/jlr.M061978","article-title":"Evaluation of plasma cholestane-3\u03b2,5\u03b1,6\u03b2-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism","volume":"57","year":"2016","journal-title":"J Lipid Res"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1373\/clinchem.2012.192138","article-title":"Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry","volume":"59","year":"2013","journal-title":"Clin Chem"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.bbalip.2013.11.004","article-title":"Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses","volume":"1841","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"ref141","article-title":"Clinical, biochemical and molecular characterization of prosaposin deficiency","year":"2016","journal-title":"Clin Genet"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.cca.2013.01.017","article-title":"Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease","volume":"419","year":"2013","journal-title":"Clin Chim Acta"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1111\/j.1471-4159.1992.tb08460.x","article-title":"Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses","volume":"59","year":"1992","journal-title":"J Neurochem"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.cca.2014.08.002","article-title":"Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry","volume":"438","year":"2015","journal-title":"Clin Chim Acta"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1373\/clinchem.2012.192138","article-title":"Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry","volume":"59","year":"2013","journal-title":"Clin Chem"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2013.11.012","article-title":"Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients","volume":"111","year":"2014","journal-title":"Mol Genet Metab"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ymgme.2015.12.006","article-title":"Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders","volume":"117","year":"2016","journal-title":"Mol Genet Metab"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13023-016-0413-3","article-title":"Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients","volume":"11","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.bbalip.2013.11.004","article-title":"Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses","volume":"1841","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13023-015-0274-1","article-title":"A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease","volume":"10","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","year":"2008","journal-title":"Proc Natl Acad Sci"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1182\/blood-2011-05-352971","article-title":"Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response","volume":"118","year":"2011","journal-title":"Blood"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0022-2275(20)37736-1","article-title":"Analysis of galactosylsphingosine (psychosine) in the brain","volume":"25","year":"1984","journal-title":"J Lipid Res"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1194\/jlr.M061978","article-title":"Evaluation of plasma cholestane-3\u03b2,5\u03b1,6\u03b2-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism","volume":"57","year":"2016","journal-title":"J Lipid Res"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.cca.2015.07.026","article-title":"Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool","volume":"450","year":"2015","journal-title":"Clin Chim Acta"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature13476","article-title":"Sphingolipid lysosomal storage disorders","volume":"510","year":"2014","journal-title":"Nature"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1182\/blood-2011-05-352971","article-title":"Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response","volume":"118","year":"2011","journal-title":"Blood"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"e114669","DOI":"10.1371\/journal.pone.0114669","article-title":"Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for niemann-pick disease type C in a retrospective study","volume":"9","year":"2014","journal-title":"PLoS One"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.cca.2012.09.026","article-title":"LC-MS\/MS analysis of plasma lyso-Gb3 in Fabry disease","volume":"414","year":"2012","journal-title":"Clin Chim Acta"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1194\/jlr.M060343","article-title":"Cholestane-3\u03b2,5\u03b1,6\u03b2-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency","volume":"56","year":"2015","journal-title":"J Lipid Res"},{"key":"ref371","article-title":"Clinical, biochemical and molecular characterization of prosaposin deficiency","year":"2016","journal-title":"Clin Genet"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.cca.2015.07.026","article-title":"Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool","volume":"450","year":"2015","journal-title":"Clin Chim Acta"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1515\/cclm-2015-0669","article-title":"High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease","volume":"54","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1111\/j.1471-4159.1992.tb08460.x","article-title":"Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses","volume":"59","year":"1992","journal-title":"J Neurochem"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"e114669","DOI":"10.1371\/journal.pone.0114669","article-title":"Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for niemann-pick disease type C in a retrospective study","volume":"9","year":"2014","journal-title":"PLoS One"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1194\/jlr.D044024","article-title":"Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease","volume":"55","year":"2014","journal-title":"J Lipid Res"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1194\/jlr.M060343","article-title":"Cholestane-3\u03b2,5\u03b1,6\u03b2-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency","volume":"56","year":"2015","journal-title":"J Lipid Res"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1515\/cclm-2015-0669","article-title":"High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease","volume":"54","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ymgme.2015.12.006","article-title":"Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders","volume":"117","year":"2016","journal-title":"Mol Genet Metab"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.bcmd.2015.01.006","article-title":"Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard","volume":"54","year":"2015","journal-title":"Blood Cells Mol Dis"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1194\/jlr.D044024","article-title":"Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease","volume":"55","year":"2014","journal-title":"J Lipid Res"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.cca.2012.09.026","article-title":"LC-MS\/MS analysis of plasma lyso-Gb3 in Fabry disease","volume":"414","year":"2012","journal-title":"Clin Chim Acta"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.bbalip.2013.10.015","article-title":"Sphingolipids and lysosomal pathologies","volume":"1841","year":"2014","journal-title":"Biochim Biophys Acta"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/cclm.2017.55.issue-3\/cclm-2016-0340\/cclm-2016-0340.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2016-0340\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T22:57:05Z","timestamp":1692658625000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2016-0340\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":46,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1515\/cclm-2016-0340","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,1]]}}}