{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T09:28:23Z","timestamp":1790155703070,"version":"4.0.1"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,3,1]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Biochemical markers that accurately reflect the severity and progression of disease in patients with Fabry disease and their response to treatment are urgently needed. Globotriaosylsphingosine, also called lysoglobotriaosylceramide (lysoGb3), is a promising candidate biomarker.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>We synthesized lysoGb3 and isotope-labeled [5,6,7,8,9] 13C5-lysoGb3 (internal standard). After addition of the internal standard to 25 \u03bcL plasma or 400 \u03bcL urine from patients with Fabry disease and healthy controls, samples were extracted with organic solvents and the lysoGb3 concentration was quantified by UPLC-ESI-MS\/MS (ultraperformance liquid chromatography\u2013electrospray ionization\u2013tandem mass spectrometry). Calibration curves were constructed with control plasma and urine supplemented with lysoGb3. In addition to lysoGb3, lyso-ene-Gb3 was quantified. Quantification was achieved by multiple reaction monitoring of the transitions m\/z 786.4 &amp;gt; 282.3 [M+H]+ for lysoGb3, m\/z 791.4 &amp;gt; 287.3 [M+H]+ for [5,6,7,8,9] 13C5-lysoGb3, and 784.4 &amp;gt; 280.3 [M+H]+ for lyso-ene-Gb3.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>The mean (SD) plasma lysoGb3 concentration from 10 classically affected Fabry hemizygotes was 94.4 (25.8) pmol\/mL (range 52.7\u2013136.8 pmol\/mL), from 10 classically affected Fabry heterozygotes 9.6 (5.8) pmol\/mL (range 4.1\u201323.5 pmol\/mL), and from 20 healthy controls 0.4 (0.1) pmol\/mL (range 0.3\u20130.5 pmol\/mL). Lyso-ene-Gb3 concentrations were 10%\u201325% of total lysoGb3. The urine concentration of lysoGb3 was 40\u2013480 times lower than in corresponding plasma samples. Lyso-ene-Gb3 concentrations in urine were comparable or even higher than the corresponding lysoGb3 concentrations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS<\/jats:title>\n                    <jats:p>This assay for the quantification of lysoGb3 and lyso-ene-Gb3 in human plasma and urine samples will be an important tool in the diagnosis of Fabry disease and for monitoring the effect of enzyme replacement therapy in patients with Fabry disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1373\/clinchem.2012.192138","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T20:48:30Z","timestamp":1355431710000},"page":"547-556","source":"Crossref","is-referenced-by-count":86,"title":["Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography\u2013Tandem Mass Spectrometry"],"prefix":"10.1093","volume":"59","author":[{"given":"Henrik","family":"Gold","sequence":"first","affiliation":[{"name":"Leiden Institute of Chemistry, Leiden University, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Mirzaian","sequence":"first","affiliation":[{"name":"Departments of Medical Biochemistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Dekker","sequence":"first","affiliation":[{"name":"Departments of Medical Biochemistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Joao Ferraz","sequence":"first","affiliation":[{"name":"Departments of Medical Biochemistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Lugtenburg","sequence":"first","affiliation":[{"name":"Leiden Institute of Chemistry, Leiden University, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen DC","family":"Cod\u00e9e","sequence":"first","affiliation":[{"name":"Leiden Institute of Chemistry, Leiden University, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs A","family":"van der Marel","sequence":"first","affiliation":[{"name":"Leiden Institute of Chemistry, Leiden University, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herman S","family":"Overkleeft","sequence":"first","affiliation":[{"name":"Leiden Institute of Chemistry, Leiden University, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor E","family":"Linthorst","sequence":"first","affiliation":[{"name":"Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna EM","family":"Groener","sequence":"first","affiliation":[{"name":"Departments of Medical Biochemistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes M","family":"Aerts","sequence":"first","affiliation":[{"name":"Departments of Medical Biochemistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben JHM","family":"Poorthuis","sequence":"first","affiliation":[{"name":"Departments of Medical Biochemistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,3,1]]},"reference":[{"key":"2020022705244990200_B1","first-page":"3733","article-title":"a-Galactosidase A deficiency: Fabry disease","volume-title":"The metabolic and molecular bases of inherited disease","author":"Desnick","year":"2001","edition":"8th ed."},{"key":"2020022705244990200_B2","doi-asserted-by":"crossref","first-page":"e598","DOI":"10.1371\/journal.pone.0000598","article-title":"Treatment of Fabry disease: 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