{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T19:08:03Z","timestamp":1776539283939,"version":"3.51.2"},"reference-count":14,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T00:00:00Z","timestamp":1686873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaapos.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of American Association for Pediatric Ophthalmology and Strabismus"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.jaapos.2023.04.013","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T17:30:42Z","timestamp":1686850242000},"page":"208-211","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis"],"prefix":"10.1016","volume":"27","author":[{"given":"Sharon F.","family":"Freedman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monte A.","family":"Del Monte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulysses","family":"Diva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean P.","family":"Donahue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arlene V.","family":"Drack","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rana","family":"Dutta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon S.M.","family":"Fung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Imperiale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine O.","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phoebe D.","family":"Lenhart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria E.","family":"Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily A.","family":"McCourt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bharti R.","family":"Nihalani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarlan","family":"Sabahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin D.","family":"Stahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia A.","family":"Miraldi Utz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"M. Edward","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly G.","family":"Yen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah K.","family":"VanderVeen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaapos.2023.04.013_bib1","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1007\/s10545-017-0093-8","article-title":"Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)","volume":"40","author":"Salen","year":"2017","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jaapos.2023.04.013_bib2","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s10545-013-9674-3","article-title":"A\u00a0suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis","volume":"37","author":"Mignarri","year":"2014","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jaapos.2023.04.013_bib3","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s13023-016-0419-x","article-title":"Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood","volume":"11","author":"Degos","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jaapos.2023.04.013_bib4","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1001\/jamaophthalmol.2019.3639","article-title":"Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with acquired juvenile-onset idiopathic bilateral cataracts","volume":"137","author":"Freedman","year":"2019","journal-title":"JAMA Ophthal"},{"key":"10.1016\/j.jaapos.2023.04.013_bib5","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13023-022-02578-1","article-title":"Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis","volume":"18","author":"Pramparo","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jaapos.2023.04.013_bib6","first-page":"269.e1","article-title":"Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey","volume":"25","author":"Atilla","year":"2021","journal-title":"J\u00a0AAPOS"},{"key":"10.1016\/j.jaapos.2023.04.013_bib7","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00417-022-05802-7","article-title":"Systemic and ocular associations in pediatric patients undergoing cataract surgery","volume":"261","author":"Nihalani","year":"2023","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.jaapos.2023.04.013_bib8","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/WNF.0b013e318288076a","article-title":"Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis","volume":"36","author":"Yahalom","year":"2013","journal-title":"Clinical Neuropharmacol"},{"key":"10.1016\/j.jaapos.2023.04.013_bib9","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.jacl.2018.06.008","article-title":"Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis","volume":"12","author":"Duell","year":"2018","journal-title":"J\u00a0Clin Lipidol"},{"key":"10.1016\/j.jaapos.2023.04.013_bib10","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1111\/j.1651-2227.1996.tb14189.x","article-title":"Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis","volume":"85","author":"van Heijst","year":"1996","journal-title":"Acta Paediatrica"},{"key":"10.1016\/j.jaapos.2023.04.013_bib11","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s004310050818","article-title":"Treatment and follow-up of children with cerebrotendinous xanthomatosis","volume":"157","author":"van Heijst","year":"1998","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jaapos.2023.04.013_bib12","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s13760-017-0851-2","article-title":"Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey","volume":"119","author":"Zubarioglu","year":"2019","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.jaapos.2023.04.013_bib13","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10545-015-9873-1","article-title":"Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis","volume":"39","author":"Mignarri","year":"2016","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jaapos.2023.04.013_bib14","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1542\/peds.2008-0192","article-title":"Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat","volume":"123","author":"Berginer","year":"2009","journal-title":"Pediatrics"}],"container-title":["Journal of American Association for Pediatric Ophthalmology and Strabismus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1091853123001192?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1091853123001192?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T20:26:57Z","timestamp":1761078417000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1091853123001192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S1091853123001192"],"URL":"https:\/\/doi.org\/10.1016\/j.jaapos.2023.04.013","relation":{},"ISSN":["1091-8531"],"issn-type":[{"value":"1091-8531","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis","name":"articletitle","label":"Article Title"},{"value":"Journal of American Association for Pediatric Ophthalmology and Strabismus","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaapos.2023.04.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc. on behalf of American Association for Pediatric Ophthalmology and Strabismus.","name":"copyright","label":"Copyright"}]}}