{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:04:40Z","timestamp":1790395480227,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T00:00:00Z","timestamp":1518393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T00:00:00Z","timestamp":1518393600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Stofwisselkracht"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Since organic acid analysis in urine with gaschromatography\u2010mass spectrometry (GC\u2010MS) is a time\u2010consuming technique, we developed a new liquid chromatography\u2010quadrupole time\u2010of\u2010flight mass spectrometry (LC\u2010QTOF\/MS) method to replace the classical analysis for diagnosis of inborn errors of metabolism (IEM). Sample preparation is simple and experimental time short. Targeted mass extraction and automatic calculation of z\u2010scores generated profiles characteristic for the IEMs in our panel consisting of 71 biomarkers for defects in amino acids, neurotransmitters, fatty acids, purine, and pyrimidine metabolism as well as other disorders. In addition, four medication\u2010related metabolites were included in the panel. The method was validated to meet Dutch NEN\u2010EN\u2010ISO 15189 standards. Cross validation of 24 organic acids from 28 urine samples of the ERNDIM scheme showed superiority of the UPLC\u2010QTOF\/MS method over the GC\u2010MS method. We applied our method to 99 patient urine samples with 32 different IEMs, and 88 control samples. All IEMs were unambiguously established\/diagnosed using this new QTOF method by evaluation of the panel of 71 biomarkers. In conclusion, we present a LC\u2010QTOF\/MS method for fast and accurate quantitative organic acid analysis which facilitates screening of patients for IEMs. Extension of the panel of metabolites is easy which makes this application a promising technique in metabolic diagnostics\/laboratories.<\/jats:p>","DOI":"10.1007\/s10545-017-0129-0","type":"journal-article","created":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T09:44:38Z","timestamp":1518428678000},"page":"415-424","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Fast and accurate quantitative organic acid analysis with LC\u2010QTOF\/MS facilitates screening of patients for inborn errors of metabolism"],"prefix":"10.1002","volume":"41","author":[{"given":"Irene M. L. W.","family":"K\u00f6rver\u2010Keularts","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands"},{"name":"Department of Human Biology, NUTRIM School of Nutrition and Translational Research in Metabolism Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huub W. A. H.","family":"Waterval","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo A. 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J.","family":"Habets","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rgen","family":"Bierau","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-40337-8"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0073076"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0545-4"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.07.001"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-40337-8_50"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30088"},{"key":"e_1_2_9_8_1","unstructured":"ManuilovaE SchuetzenmeisterA ModelF(2014)MCR: method comparison regression. 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