{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T11:18:19Z","timestamp":1777288699080,"version":"3.51.4"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100003181","name":"National Niemann-Pick Disease Foundation","doi-asserted-by":"publisher","award":["NPC1"],"award-info":[{"award-number":["NPC1"]}],"id":[{"id":"10.13039\/100003181","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003181","name":"National Niemann-Pick Disease Foundation","doi-asserted-by":"publisher","award":["R01NS081985"],"award-info":[{"award-number":["R01NS081985"]}],"id":[{"id":"10.13039\/100003181","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.ymgme.2018.08.007","type":"journal-article","created":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T23:38:26Z","timestamp":1535067506000},"page":"183-187","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots"],"prefix":"10.1016","volume":"126","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9048-7294","authenticated-orcid":false,"given":"Xuntian","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1703-2167","authenticated-orcid":false,"given":"Rohini","family":"Sidhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph J.","family":"Orsini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole Y.","family":"Farhat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean E.","family":"Schaffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel S.","family":"Ory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2018.08.007_bb0005","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/humu.20636","article-title":"NPC-db, a Niemann-pick type C disease gene variation database","volume":"29","author":"Runz","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0010","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann-pick disease type C","volume":"5","author":"Vanier","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0015","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/gim.2015.25","article-title":"High incidence of unrecognized visceral\/neurological late-onset Niemann-pick disease, type C1, predicted by analysis of massively parallel sequencing data sets","volume":"18","author":"Wassif","year":"2016","journal-title":"Genet Med."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0020","doi-asserted-by":"crossref","first-page":"4349","DOI":"10.1093\/hmg\/ddt284","article-title":"Genetic screening for Niemann-pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study","volume":"22","author":"Bauer","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0025","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","article-title":"Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann-pick disease, type C1: a non-randomised, open-label, phase 1-2 trial","volume":"390","author":"Ory","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0030","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13023-015-0284-z","article-title":"Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-pick disease type C: an observational cohort study","volume":"10","author":"Patterson","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0035","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","article-title":"Miglustat for treatment of Niemann-pick C disease: a randomised controlled study","volume":"6","author":"Patterson","year":"2007","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0040","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ymgme.2016.06.004","article-title":"Diagnostic tests for Niemann-pick disease type C (NP-C): a critical review","volume":"118","author":"Vanier","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0045","series-title":"The Adult Form of Niemann-Pick Disease Type C Brain","first-page":"120","volume":"Vol. 130","author":"Sevin","year":"2007"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0050","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/ajmg.b.30969","article-title":"Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C","volume":"153B","author":"Yanjanin","year":"2010","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0055","doi-asserted-by":"crossref","first-page":"337ra363","DOI":"10.1126\/scitranslmed.aaf2326","article-title":"Development of a bile acid-based newborn screen for Niemann-pick disease type C","volume":"8","author":"Jiang","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0060","series-title":"Center for Drug Evaluation and Research and Center for Veterinary Medicine","author":"US Department of Health and Human Services, Food and Drug Administration","year":"2001"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0065","series-title":"Niemann-Pick disease: a review of eighteen patients Medicine (Baltimore)","first-page":"1","volume":"37","author":"Crocker","year":"1958"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0070","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10545-006-0384-7","article-title":"The natural history of Niemann-pick disease type C in the UK","volume":"30","author":"Imrie","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0075","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1750-1172-8-35","article-title":"Niemann-pick disease type C clinical database: cognitive and coordination deficits are early disease indicators","volume":"8","author":"Stampfer","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0080","doi-asserted-by":"crossref","first-page":"56ra81","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.ymgme.2018.08.007_bb0085","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.ymgme.2018.08.007_bb0090","first-page":"93","article-title":"A new simple and rapid LC-ESI-MS\/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-pick type C disease Clinica chimica acta","volume":"437","author":"Boenzi","year":"2014","journal-title":"Int. J. Clin. Chem."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0095","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1194\/jlr.M060343","article-title":"Cholestane-3beta,5alpha,6beta-triol in lipidosis: 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.ymgme.2018.08.007_bb0100","first-page":"403","article-title":"High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-pick type C disease","volume":"55","author":"Polo","year":"2015","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0105","author":"Reunert"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0110","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.ymgme.2018.08.007_bb0115","series-title":"Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5alpha,6beta-Triol and Further Insight into the Clinical Phenotype JIMD Rep","first-page":"17","volume":"Vol. 23","author":"Reunert","year":"2015"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0120","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13023-015-0274-1","article-title":"A novel, highly sensitive and specific biomarker for Niemann-pick type C1 disease","volume":"10","author":"Giese","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0125","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ab.2017.02.019","article-title":"Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-pick a\/B and C diseases","volume":"525","author":"Kuchar","year":"2017","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0130","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1515\/cclm-2016-0340","article-title":"Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS\/MS","volume":"55","author":"Polo","year":"2017","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0135","doi-asserted-by":"crossref","first-page":"276ra226","DOI":"10.1126\/scitranslmed.3010101","article-title":"Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-pick type C1 disease","volume":"7","author":"Vite","year":"2015","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0140","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann-pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression","volume":"4","author":"Davidson","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2018.08.007_bb0145","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1194\/jlr.M700525-JLR200","article-title":"Genetic variations and treatments that affect the lifespan of the NPC1 mouse","volume":"49","author":"Liu","year":"2008","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2018.08.007_bb0150","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1146\/annurev.biochem.72.121801.161712","article-title":"The enzymes, regulation, and genetics of bile acid synthesis","volume":"72","author":"Russell","year":"2003","journal-title":"Annu. Rev. Biochem."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719218304001?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719218304001?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:22:22Z","timestamp":1761088942000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719218304001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["S1096719218304001"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2018.08.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2018.08.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}