{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T17:02:03Z","timestamp":1791392523104,"version":"4.3.3"},"reference-count":26,"publisher":"Stanford University Press","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":730,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Asia-Pacific Federation of Clinical Biochemistry"},{"name":"Laboratory Medicine for funding of the urine steroid metabolome method development"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Mass Spectrometry"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1016\/j.clinms.2017.12.001","type":"journal-article","created":{"date-parts":[[2017,12,13]],"date-time":"2017-12-13T13:44:19Z","timestamp":1513172659000},"page":"1-5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["11\u03b2-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry"],"prefix":"10.21627","volume":"7","author":[{"given":"Mai Thi Chi","family":"Tran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc Anh Thi","family":"Tran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phuong Mai","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi Dung","family":"Vu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh Dien","family":"Tran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diem Ngoc","family":"Ngo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huy Hoang","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronda F.","family":"Greaves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4811","reference":[{"key":"10.1016\/j.clinms.2017.12.001_b0005","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1056\/NEJMra021561","article-title":"Congenital adrenal hyperplasia","volume":"349","author":"Specier","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clinms.2017.12.001_b0010","doi-asserted-by":"crossref","unstructured":"M.I. New, O. Lekarev, E. Mancenido, A. Parsa, T. Yuen, Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency, Genetics Steroid Disorders, ed MI New et al., 2014, pp. 29\u201351.","DOI":"10.1016\/B978-0-12-416006-4.00003-X"},{"key":"10.1016\/j.clinms.2017.12.001_b0015","doi-asserted-by":"crossref","unstructured":"P.C. White, Steroid 11-beta-hydroxylase deficiency and related disorders. Genetic Steroid Disorders. ed MI New et al., 2014, pp. 71\u201385.","DOI":"10.1016\/B978-0-12-416006-4.00006-5"},{"key":"10.1016\/j.clinms.2017.12.001_b0020","series-title":"Physician\u2019s Guide to the laboratory diagnosis of metabolic diseases","first-page":"551","article-title":"Disorders of Steroid synthesis and metabolism","author":"Biason-Lauber","year":"1996"},{"issue":"5","key":"10.1016\/j.clinms.2017.12.001_b0025","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/EJE-16-0953","article-title":"Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST action BM 1303 DSDnet","volume":"176","author":"Kulle","year":"2017","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.clinms.2017.12.001_b0030","article-title":"The art of measuring steroids - principles and practice of current hormonal steroid analysis","author":"Wudy","year":"2017","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"10.1016\/j.clinms.2017.12.001_b0035","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1210\/jcem.87.8.8712","article-title":"The diagnosis of congenital adrenal hyperplasia in the newborn by Gas Chromatography\/Mass Spectrometry analysis of random urine specimens","volume":"87","author":"Caulfield","year":"2002","journal-title":"J. Clin. Endocrinol. Metabol."},{"key":"10.1016\/j.clinms.2017.12.001_b0040","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.clinbiochem.2012.12.006","article-title":"Urinary steroid profiling in the diagnosis of congenital adrenal hyperplasia and disorders of sex development: experience of a urinary steroid referral centre in Hong Kong","volume":"46","author":"Chan","year":"2012","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.clinms.2017.12.001_b0045","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.clinbiochem.2013.11.016","article-title":"Development of a new biochemical test to diagnose and monitor neuroblastoma in Vietnam: homovanillic and vanillylmandelic acid by gas chromatography \u2013mass spectrometry","volume":"47","author":"Tran","year":"2014","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.clinms.2017.12.001_b0050","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1016\/j.clinbiochem.2016.08.008","article-title":"Practical application of biological variation and SigmaMetrics quality models to evaluate 20 chemistry analytes on the Beckman AU680","volume":"49","author":"Tran","year":"2016","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.clinms.2017.12.001_b0055","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1177\/000456329703400106","article-title":"Steroid profiling","volume":"34","author":"Honour","year":"1997","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.clinms.2017.12.001_b0060","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1111\/j.1440-1754.2006.00925.x","article-title":"11\u03b2-hydroxylase deficiency masked by alternative medicines","volume":"42","author":"Greaves","year":"2006","journal-title":"J. Paediatric Child Health"},{"key":"10.1016\/j.clinms.2017.12.001_b0065","unstructured":"UCL\/SKML - Clinical Biochemistry - HSL Analytics LLP.Floor 2,1 Mabledon Place, London WC1H 9AX(Dr Francis Lam), steroidprofile.eqa@hslpathology.com."},{"key":"10.1016\/j.clinms.2017.12.001_b0070","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.jsbmb.2015.07.024","article-title":"Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: tracing the complexity of human postnatal steroidogenesis","volume":"154","author":"Dhayat","year":"2015","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"10.1016\/j.clinms.2017.12.001_b0075","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.gene.2012.08.009","article-title":"Novel homozygous p. Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11beta-hydroxylase deficiency","volume":"509","author":"Nguyen","year":"2012","journal-title":"Gene"},{"issue":"10","key":"10.1016\/j.clinms.2017.12.001_b0080","doi-asserted-by":"crossref","first-page":"E1933","DOI":"10.1073\/pnas.1621082114","article-title":"Clinical, genetic and structural basis of congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency","volume":"114","author":"Khattab","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.clinms.2017.12.001_b0085","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.beem.2008.10.014","article-title":"Genetics of congenital adrenal hyperplasia","volume":"23","author":"Krone","year":"2009","journal-title":"Best Pract. Res. Clin. Endocrinol. Meta"},{"issue":"S2","key":"10.1016\/j.clinms.2017.12.001_b0090","first-page":"S48","article-title":"Registry of congenital adrenal hyperplasia at the north pediatric referral centre of Vietnam during 15 years","volume":"3","author":"Dung","year":"2015","journal-title":"Ann. Transl. Med."},{"issue":"1","key":"10.1016\/j.clinms.2017.12.001_b0095","first-page":"64","article-title":"Congenital adrenal hyperplasia and SchmidmetaphysealChondrodysplasia in a child","volume":"41","author":"Efat","year":"2016","journal-title":"Iran J. Med. Sci."},{"issue":"6","key":"10.1016\/j.clinms.2017.12.001_b0100","first-page":"1","article-title":"Congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency","volume":"85","author":"Ramires","year":"2005","journal-title":"Arquivos Brasilairos de Cardiologia"},{"key":"10.1016\/j.clinms.2017.12.001_b0105","first-page":"48","article-title":"Congenital adrenal hyperplasia masquerading as periodic paralysis in an aldolescent girl","volume":"53","author":"Sathya","year":"2012","journal-title":"Singapore Med. J."},{"key":"10.1016\/j.clinms.2017.12.001_b0110","unstructured":"Roche cortisol Gen 2, Available at: https:\/\/www.accessdata.fda.gov\/cdrh_docs\/reviews\/K152227.pdf. Accessed 6th September 2017."},{"key":"10.1016\/j.clinms.2017.12.001_b0115","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1177\/000456328201900303","article-title":"Precociouspseudopuberty due to a rare form of congenital adrenal hyperplasia","volume":"19","author":"Ratcliffe","year":"1982","journal-title":"Ann. Clin. Biochem."},{"issue":"3","key":"10.1016\/j.clinms.2017.12.001_b0120","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1177\/0004563216687335","article-title":"Measuring cortisol in serum, urine andsaliva \u2013 are our assays good enough?","volume":"54","author":"El-Farhan","year":"2017","journal-title":"Ann. Clin. Biochem."},{"issue":"10","key":"10.1016\/j.clinms.2017.12.001_b0125","doi-asserted-by":"crossref","first-page":"E1620","DOI":"10.1210\/jc.2013-1306","article-title":"A diagnosis not to be missed: nonclassic steroid 11\u03b2-hydroxylase deficiency presenting with premature adrenarche and hirsutism","volume":"98","author":"Reisch","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"3-5","key":"10.1016\/j.clinms.2017.12.001_b0130","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.jsbmb.2010.04.010","article-title":"Gas chromatography\/mass spectrometry (GC-MS) remains a preeminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC\/MS\/MS)","volume":"121","author":"Krone","year":"2010","journal-title":"J. Steroid Biochem. Mol. Biol."}],"container-title":["Clinical Mass Spectrometry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S237699981730034X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S237699981730034X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T03:47:32Z","timestamp":1770263252000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S237699981730034X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":26,"alternative-id":["S237699981730034X"],"URL":"https:\/\/doi.org\/10.1016\/j.clinms.2017.12.001","relation":{},"ISSN":["2376-9998"],"issn-type":[{"value":"2376-9998","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"11\u03b2-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry","name":"articletitle","label":"Article Title"},{"value":"Clinical Mass Spectrometry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinms.2017.12.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Association for Mass Spectrometry: Applications to the Clinical Lab (MSACL). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}