{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:25:43Z","timestamp":1778153143129,"version":"3.51.4"},"reference-count":31,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["lipidjournal.com","clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.jacl.2024.02.009","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T16:49:18Z","timestamp":1709138958000},"page":"e452-e464","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them"],"prefix":"10.1016","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-7659","authenticated-orcid":false,"given":"Banu Kad\u0131o\u011flu","family":"Y\u0131lmaz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil","family":"\u00c7elik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.jacl.2024.02.009_bib0001","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1007\/s11011-021-00714-7","article-title":"Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement","volume":"36","author":"K\u0131sa","year":"2021","journal-title":"Metab Brain Dis"},{"issue":"6","key":"10.1016\/j.jacl.2024.02.009_bib0002","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 Inherit Metab Dis"},{"issue":"5\u20136","key":"10.1016\/j.jacl.2024.02.009_bib0003","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1159\/000506770","article-title":"Patients with lately diagnosed cerebrotendinous xanthomatosis","volume":"19","author":"Yunisova","year":"2019","journal-title":"Neurodegener Dis"},{"key":"10.1016\/j.jacl.2024.02.009_bib0004","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"},{"issue":"3","key":"10.1016\/j.jacl.2024.02.009_bib0005","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s10545-013-9674-3","article-title":"A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis","volume":"37","author":"Mignarri","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jacl.2024.02.009_bib0006","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jcot.2016.02.007","article-title":"Cerebrotendinous xanthomatosis; a genetic condition: clinical profile of three patients from a rural Indian family and review of literature","volume":"7","author":"Saxena","year":"2016","journal-title":"J Clin Orthop Trauma"},{"issue":"5","key":"10.1016\/j.jacl.2024.02.009_bib0007","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 Clin Lipidol"},{"issue":"1","key":"10.1016\/j.jacl.2024.02.009_bib0008","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 Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.jacl.2024.02.009_bib0009","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/s10038-017-0389-4","article-title":"Nationwide survey on cerebrotendinous xanthomatosis in Japan","volume":"63","author":"Sekijima","year":"2018","journal-title":"J Hum Genet"},{"issue":"3","key":"10.1016\/j.jacl.2024.02.009_bib0010","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"},{"issue":"3","key":"10.1016\/j.jacl.2024.02.009_bib0011","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":"Clin Neuropharmacol"},{"issue":"6","key":"10.1016\/j.jacl.2024.02.009_bib0012","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s12098-010-0070-9","article-title":"Cerebrotendinous xanthomatosis","volume":"77","author":"Kamate","year":"2010","journal-title":"Indian J Pediatr"},{"issue":"2","key":"10.1016\/j.jacl.2024.02.009_bib0013","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/j.asjsur.2021.11.063","article-title":"Cerebrotendinous xanthomatosis: a case report","volume":"45","author":"Xiao","year":"2022","journal-title":"Asian J Surg"},{"issue":"1","key":"10.1016\/j.jacl.2024.02.009_bib0014","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.jocd.2005.08.001","article-title":"Bone mineral density of healthy Turkish children and adolescents","volume":"9","author":"Goksen","year":"2006","journal-title":"J Clin Densitom"},{"key":"10.1016\/j.jacl.2024.02.009_bib0015","first-page":"43","article-title":"International Society for clinical densitometry 2007 Adult and Pediatric Official Positions","author":"Lewiecki","year":"2008","journal-title":"Bone"},{"issue":"4","key":"10.1016\/j.jacl.2024.02.009_bib0016","doi-asserted-by":"crossref","first-page":"280","DOI":"10.4274\/jcrpe.2183","article-title":"Reference values for weight, height, head circumference, and body mass index in Turkish children","volume":"7","author":"Neyzi","year":"2015","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"10.1016\/j.jacl.2024.02.009_bib0017","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"},{"issue":"4","key":"10.1016\/j.jacl.2024.02.009_bib0018","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1001\/archneur.57.4.520","article-title":"Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis","volume":"57","author":"Verrips","year":"2000","journal-title":"Arch Neurol"},{"issue":"10","key":"10.1016\/j.jacl.2024.02.009_bib0019","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1111\/j.1468-1331.2011.03439.x","article-title":"Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey","volume":"18","author":"Pilo-de-la-Fuente","year":"2011","journal-title":"Eur J Neurol"},{"issue":"9","key":"10.1016\/j.jacl.2024.02.009_bib0020","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1001\/archneur.62.9.1459","article-title":"Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized","volume":"62","author":"Lorincz","year":"2005","journal-title":"Arch Neurol"},{"issue":"11","key":"10.1016\/j.jacl.2024.02.009_bib0021","doi-asserted-by":"crossref","first-page":"2214","DOI":"10.1194\/jlr.M087999","article-title":"Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment","volume":"59","author":"DeBarber","year":"2018","journal-title":"J Lipid Res"},{"issue":"5","key":"10.1016\/j.jacl.2024.02.009_bib0022","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaapos.2021.04.015","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 AAPOS"},{"issue":"11","key":"10.1016\/j.jacl.2024.02.009_bib0023","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 Ophthalmol"},{"key":"10.1016\/j.jacl.2024.02.009_bib0024","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1093\/brain\/123.5.908","article-title":"Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis","volume":"123","author":"Verrips","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.jacl.2024.02.009_bib0025","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/B978-0-444-62702-5.00003-2","article-title":"Acquired neurocutaneous disorders","volume":"132","author":"Nouh","year":"2015","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.jacl.2024.02.009_bib0026","article-title":"Malar rash in classical homocystinuria","volume":"2017","author":"Saini","year":"2017","journal-title":"BMJ Case Rep"},{"issue":"2","key":"10.1016\/j.jacl.2024.02.009_bib0027","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.gene.2013.10.060","article-title":"High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands","volume":"534","author":"Karaca","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.jacl.2024.02.009_bib0028","series-title":"StatPearls","article-title":"Cerebrotendinous Xanthomatosis","author":"Carson","year":"2023"},{"key":"10.1016\/j.jacl.2024.02.009_bib0029","series-title":"Endotext","article-title":"Cerebrotendinous Xanthomatosis","author":"Patni","year":"2023"},{"issue":"4","key":"10.1016\/j.jacl.2024.02.009_bib0030","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1159\/000198082","article-title":"Controlled trial of chenodeoxycholic therapy for radiolucent gallstones. A multicenter study","volume":"16","author":"Gerolami","year":"1977","journal-title":"Digestion"},{"issue":"3","key":"10.1016\/j.jacl.2024.02.009_bib0031","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1136\/gut.15.3.165","article-title":"Liver structure and function in cholelithiasis: effect of chenodeoxycholic acid","volume":"15","author":"Bell","year":"1974","journal-title":"Gut"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287424000321?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287424000321?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T04:13:45Z","timestamp":1735532025000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287424000321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S1933287424000321"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2024.02.009","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2024.02.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 National Lipid Association. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}