{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:07:26Z","timestamp":1789812446495,"version":"4.0.1"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100005646","name":"Actelion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005646","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Center for Laboratory Medicine"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.1016\/j.jsbmb.2016.02.030","type":"journal-article","created":{"date-parts":[[2016,3,3]],"date-time":"2016-03-03T03:48:00Z","timestamp":1456976880000},"page":"54-60","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"special_numbering":"C","title":["Determination of serum cholestane-3\u03b2,5\u03b1,6\u03b2-triol by gas chromatography\u2013mass spectrometry for identification of Niemann-Pick type C (NPC) disease"],"prefix":"10.1016","volume":"169","author":[{"given":"Frank","family":"Kannenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerzy-Roch","family":"Nofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erhard","family":"Schulte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Reunert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"Fobker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jsbmb.2016.02.030_bib0005","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s00415-014-7386-8","article-title":"Genetic and laboratory diagnostic approach in Niemann Pick disease type C","volume":"261","author":"McKay Bounford","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0010","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10545-014-9794-4","article-title":"Complex lipid trafficking in Niemann-Pick disease type C","volume":"38","author":"Vanier","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0015","doi-asserted-by":"crossref","first-page":"25517","DOI":"10.1074\/jbc.M302588200","article-title":"NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols","volume":"278","author":"Frolov","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0020","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1126\/scitranslmed.3001417","article-title":"Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease","volume":"2","author":"Porter","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0025","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1194\/jlr.P048603","article-title":"On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO","volume":"55","author":"Bj\u00f6rkhem","year":"2014","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0030","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","author":"Pajares","year":"2015","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0035","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.clinbiochem.2015.03.007","article-title":"LC-MS\/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases","volume":"48","author":"Klinke","year":"2015","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0040","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/S0022-2275(20)38467-4","article-title":"Assay of unesterified cholesterol-5,6-epoxide in human serum by isotope dilution mass spectrometry. Levels in the healthy state and in hyperlipoproteinemia","volume":"29","author":"Bj\u00f6rkhem","year":"1988","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0045","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1006\/abio.1995.1110","article-title":"Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry","volume":"225","author":"Dzeletovic","year":"1995","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0050","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","author":"Lin","year":"2014","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0055","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.bcp.2013.01.027","article-title":"Methods for oxysterol analysis: past, present and future","volume":"86","author":"Griffiths","year":"2013","journal-title":"Biochem. Pharmacol."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0060","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1194\/jlr.D015735","article-title":"A sensitive and specific LC-MS\/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma","volume":"52","author":"Jiang","year":"2011","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0065","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/rcm.2820","article-title":"Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine","volume":"21","author":"Jiang","year":"2007","journal-title":"Rapid Commun. Mass Spectrom."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0070","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.cca.2014.07.010","article-title":"A new simple and rapid LC-ESI\u2013MS\/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters, its successful use for the diagnosis of Niemann-Pick type C disease","volume":"437","author":"Boenzi","year":"2014","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0075","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1194\/jlr.D800040-JLR200","article-title":"Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI\u2013MS\/MS","volume":"50","author":"Honda","year":"2009","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0080","first-page":"17","article-title":"Niemann-Pick type C-2 disease: identification by analysis of plasma cholestane-3\u03b2,5\u03b1,6\u03b2-triol and further Insight into the clinical phenotype","volume":"23","author":"Reunert","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0085","doi-asserted-by":"crossref","first-page":"8022","DOI":"10.1073\/pnas.85.21.8022","article-title":"Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes","volume":"85","author":"Blanchette-Mackie","year":"1988","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0090","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1172\/JCI117084","article-title":"Marked elevation of plasma chitotriosidase activity, a novel hallmark of Gaucher disease","volume":"93","author":"Hollak","year":"1994","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0095","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1097\/MOL.0b013e328362df13","article-title":"Cerebrotendinous xanthomatosis","volume":"24","author":"Bj\u00f6rkhem","year":"2013","journal-title":"Curr. Opin. Lipidol."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0100","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1148\/radiology.148.3.6878708","article-title":"A method of comparing the areas under receiver operating characteristic curves derived from the same cases","volume":"148","author":"Hanley","year":"1983","journal-title":"Radiology"},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0105","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/s13023-014-0179-4","article-title":"Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management","volume":"9","author":"Nie","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0110","series-title":"Validierung in der Analytik","first-page":"193","article-title":"Nachweis-, Bestimmungs-und Erfassungsgrenze","author":"Kromidas","year":"2011"},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0115","first-page":"255","article-title":"Vergleichende Steringehaltsbestimmungen in Fetten und \u00d6len Teil I: Gaschromatographische Methoden","volume":"89","author":"Homberg","year":"1987","journal-title":"Eur. J. Lipid Sci. Technol."},{"key":"10.1016\/j.jsbmb.2016.02.030_bib0120","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1002\/rcm.7012","article-title":"Rapid and mild silylation of \u03b2-amino alcohols at room temperature mediated by N-methylimidazole for enhanced detectability by gas chromatography\/electron ionization mass spectrometry","volume":"28","author":"Valdez","year":"2014","journal-title":"Rapid Commun. Mass Spectrom."}],"container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960076016300449?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960076016300449?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:55:18Z","timestamp":1760745318000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960076016300449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5]]},"references-count":24,"alternative-id":["S0960076016300449"],"URL":"https:\/\/doi.org\/10.1016\/j.jsbmb.2016.02.030","relation":{},"ISSN":["0960-0760"],"issn-type":[{"value":"0960-0760","type":"print"}],"subject":[],"published":{"date-parts":[[2017,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Determination of serum cholestane-3\u03b2,5\u03b1,6\u03b2-triol by gas chromatography\u2013mass spectrometry for identification of Niemann-Pick type C (NPC) disease","name":"articletitle","label":"Article Title"},{"value":"The Journal of Steroid Biochemistry and Molecular Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jsbmb.2016.02.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}