{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T09:20:28Z","timestamp":1777713628858,"version":"3.51.4"},"reference-count":39,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Chemistry and Laboratory Medicine"],"published-print":{"date-parts":[[2010,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement therapy with recombinant \u03b1-galactosidase.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> Gb3 was purified from plasma or urine by combined liquid extraction\/protein precipitation and solid-phase extraction, and was detected by flow-injection analysis electrospray mass spectrometry (MS) using multi-reaction-monitoring. Calibration was performed via standard addition using C17-Gb3 as internal standard. The most abundant isoforms were monitored for calculation of total Gb3.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> A MS-based assay for quantification of Gb3 in plasma and urine was established and validated. Intra- and inter-assay coefficient of variation (CV) of the method were \u226412%. However, at low concentrations the CV was 16%. The linear range covers roughly two orders of magnitude, down to 0.54\u00a0mg\/L in plasma and 0.07\u00a0mg\/L in urine. Careful adjustment of tuning parameters was necessary to obtain identical isoform intensities and quantitative results on different mass spectrometers. Gb3 concentrations in healthy controls were &lt;4\u00a0mg\/L in EDTA-plasma and &lt;10\u00a0\u03bcg\/mmol creatinine in urine. Significantly increased Gb3 concentrations were found in plasma and urine from male and female patients with Fabry disease.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> An improved MS protocol for Gb3 quantification has been developed, validated, and shown to be suitable for diagnosis and monitoring of Fabry patients.<\/jats:p>\n               <jats:p>Clin Chem Lab Med 2010;48:189\u201398.<\/jats:p>","DOI":"10.1515\/cclm.2010.048","type":"journal-article","created":{"date-parts":[[2009,12,4]],"date-time":"2009-12-04T08:41:20Z","timestamp":1259916080000},"page":"189-198","source":"Crossref","is-referenced-by-count":22,"title":["Determination of globotriaosylceramide in plasma and urine by mass spectrometry"],"prefix":"10.1515","volume":"48","author":[{"given":"Ralf","family":"Kr\u00fcger","sequence":"first","affiliation":[{"name":"Institute of Clinical Chemistry and Laboratory Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Bruns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silke","family":"Gr\u00fcnhage","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry and Laboratory Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi","family":"Rossmann","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry and Laboratory Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg","family":"Reinke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl J.","family":"Lackner","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry and Laboratory Medicine, Medical Center of the Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2009,12,4]]},"reference":[{"key":"p_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012443001449"},{"key":"p_3","doi-asserted-by":"crossref","first-page":"425","DOI":"10.7326\/0003-4819-146-6-200703200-00007","volume":"146","author":"Clarke JT.","year":"2007","journal-title":"Ann Intern Med"},{"key":"p_4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030204"},{"key":"p_5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2004.01.035"},{"key":"p_6","doi-asserted-by":"crossref","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","volume":"138","author":"Desnick RJ","year":"2003","journal-title":"Ann Intern Med"},{"key":"p_7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2004.01300.x"},{"key":"p_8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"p_9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"p_10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67635-0"},{"key":"p_11","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0484-8"},{"key":"p_12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.10.001"},{"key":"p_13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.01.007"},{"key":"p_14","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0280-4"},{"key":"p_15","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/S0022-2275(20)38884-2","volume":"8","author":"Vance DE","year":"1967","journal-title":"J Lipid Res"},{"key":"p_16","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(80)90178-5"},{"key":"p_17","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0022-2275(20)43219-5","volume":"31","author":"Hazumi I","year":"1990","journal-title":"J Lipid Res"},{"key":"p_18","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(90)90519-F"},{"key":"p_19","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2006.079012"},{"key":"p_20","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/S0022-2275(20)40705-9","volume":"19","author":"Ullmann MD","year":"1978","journal-title":"J Lipid Res"},{"key":"p_21","first-page":"498","volume":"7","author":"Lee WM","year":"1982","journal-title":"Biochim Biophys Acta"},{"key":"p_22","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90230-9"},{"key":"p_23","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2004.03.037"},{"key":"p_24","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1999.4002"},{"key":"p_25","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1998.2966"},{"key":"p_26","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1177\/000456329102800410","volume":"28","author":"Nakanishi T","year":"1991","journal-title":"Ann Clin Biochem"},{"key":"p_27","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-005-3239-8"},{"key":"p_28","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(02)02491-2"},{"key":"p_29","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.728"},{"key":"p_30","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.1948"},{"key":"p_31","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-4415-x"},{"key":"p_32","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2004.02.032"},{"key":"p_33","first-page":"595","volume":"163","author":"Mills K","year":"2004","journal-title":"Eur J Pediatr"},{"key":"p_34","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5263-4"},{"key":"p_35","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1373\/clinchem.2004.038323","volume":"51","author":"Nelson C","year":"2005","journal-title":"Clin Chem"},{"key":"p_36","doi-asserted-by":"publisher","DOI":"10.1002\/jms.945"},{"key":"p_37","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"p_38","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036327"},{"key":"p_39","doi-asserted-by":"publisher","DOI":"10.1080\/08035250500275022"}],"container-title":["cclm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.048\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.048\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T05:04:52Z","timestamp":1680843892000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.048\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,4]]},"references-count":39,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2009,12,7]]},"published-print":{"date-parts":[[2010,2,1]]}},"alternative-id":["10.1515\/CCLM.2010.048"],"URL":"https:\/\/doi.org\/10.1515\/cclm.2010.048","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2009,12,4]]}}}