{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T11:44:21Z","timestamp":1789904661931,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CP Human Genetics"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease is an X\u2010linked lysosomal storage disorder, caused by a deficit in <jats:italic>\u03b1<\/jats:italic>\u2010galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso\u2010Gb<jats:sub>3<\/jats:sub>), globotriaosylceramide (Gb<jats:sub>3<\/jats:sub>), and galabiosylceramide (Ga<jats:sub>2<\/jats:sub>) in organs, tissues and biological fluids. A recent metabolomic study performed in plasma revealed lyso\u2010Gb<jats:sub>3<\/jats:sub> analogs as novel Fabry disease biomarkers. These molecules correspond to lyso\u2010Gb<jats:sub>3<\/jats:sub> with different chemical modifications on the sphingosine chain (\u2212C<jats:sub>2<\/jats:sub>H<jats:sub>4<\/jats:sub>, \u2212H<jats:sub>2<\/jats:sub>, +O, +H<jats:sub>2<\/jats:sub>O, +H<jats:sub>2<\/jats:sub>O<jats:sub>2,<\/jats:sub> and +H<jats:sub>2<\/jats:sub>O<jats:sub>3<\/jats:sub>). An ultra\u2010performance liquid chromatography tandem mass spectrometry (UPLC\u2010MS\/MS) method was developed and validated for the multiplex analysis of lyso\u2010Gb<jats:sub>3<\/jats:sub> and its 6 analogs in plasma. The samples are prepared by solid phase extraction using mixed\u2010mode strong cation exchange (MCX) cartridges. An in\u2010house synthesized N\u2010glycinated lyso\u2010Gb<jats:sub>3<\/jats:sub> derivative was used for the internal standard. The limits of detection (LODs) measured for lyso\u2010Gb<jats:sub>3<\/jats:sub> and its analogs ranged from 0.06 to 0.29\u00a0nM. \u00a9 2016 by John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/cphg.4","type":"journal-article","created":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T13:17:16Z","timestamp":1467379036000},"source":"Crossref","is-referenced-by-count":10,"title":["Tandem Mass Spectrometry Quantitation of Lyso\u2010Gb<sub>3<\/sub> and Six Related Analogs in Plasma for Fabry Disease Patients"],"prefix":"10.1002","volume":"90","author":[{"given":"Michel","family":"Boutin","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Lavoie","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Abaoui","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Auray\u2010Blais","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke  Sherbrooke Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.2174\/092986712800784739"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac203433e"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.08.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac404000d"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13361\u2010014\u20101060\u20103"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2012.09.026"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u2010146\u20106\u2010200703200\u201000007"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.2174\/0929867311320020008"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.06.003"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac303033v"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac401542k"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.08.003"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/504601"}],"container-title":["Current Protocols in Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcphg.4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cphg.4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cphg.4","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cphg.4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T01:06:53Z","timestamp":1692580013000},"score":1,"resource":{"primary":{"URL":"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/10.1002\/cphg.4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/cphg.4"],"URL":"https:\/\/doi.org\/10.1002\/cphg.4","archive":["Portico"],"relation":{},"ISSN":["1934-8266","1934-8258"],"issn-type":[{"value":"1934-8266","type":"print"},{"value":"1934-8258","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7]]}}}