{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T20:35:27Z","timestamp":1793219727020,"version":"4.5.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","lipidjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.jacl.2021.07.001","type":"journal-article","created":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T01:06:14Z","timestamp":1625879174000},"page":"690-698","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients"],"prefix":"10.1016","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3798-7246","authenticated-orcid":false,"given":"Z\u00fchre","family":"Kaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ertan","family":"Sal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asl\u0131","family":"Yorulmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ping","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fcseyin","family":"G\u00fclen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015fen T\u00fcredi","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziz","family":"Tekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2021.07.001_bib0001","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","article-title":"Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters","volume":"290","author":"Berge","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.jacl.2021.07.001_bib0002","doi-asserted-by":"crossref","first-page":"783","DOI":"10.5551\/jat.RV17024","article-title":"Sitosterolemia, hypercholesterolemia, and coronary artery disease","volume":"25","author":"Tada","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2021.07.001_bib0003","unstructured":"Myrie S.B., Steiner R.D., MyminD. Sitosterolemia. 2013 Apr 4 [Updated 2020 Jul 2016]. In:AdamMP, ArdingerHH, PagonRA, et\u00a0al., Eds.. Genereviews [Internet]. Seattle (WA):University of Washington, Seattle;1993-2020. Available from: https:\/\/www.ncbi.nlm.nih.gov\/\/books\/NBK131810."},{"key":"10.1016\/j.jacl.2021.07.001_bib0004","first-page":"1","article-title":"ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction","author":"Bastida","year":"2020","journal-title":"Platelets"},{"key":"10.1016\/j.jacl.2021.07.001_bib0005","doi-asserted-by":"crossref","first-page":"741","DOI":"10.5551\/jat.42960","article-title":"Oral fat tolerance test for sitosterolemia and familial hypercholesterolemia:a study protocol","volume":"25","author":"Nomura","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2021.07.001_bib0006","doi-asserted-by":"crossref","first-page":"103","DOI":"10.3121\/cmr.2016.1294","article-title":"Sitosterolemia presenting as pseudohomozygous familial hypercholesterolemia","volume":"14","author":"Renner","year":"2016","journal-title":"Clin Med Res"},{"key":"10.1016\/j.jacl.2021.07.001_bib0007","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1002\/pbc.24934","article-title":"A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrothrombocytopenia and stomatocytosis","volume":"61","author":"Kaya","year":"2014","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jacl.2021.07.001_bib0008","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1038\/ejhg.2015.285","article-title":"Against all odds:blended phenotypes of three single gene defects","volume":"24","author":"Li","year":"2016","journal-title":"Eur J Human Genet"},{"key":"10.1016\/j.jacl.2021.07.001_bib0009","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.jacl.2017.10.013","article-title":"The association between hypercholesterolemia and sitosterolemia and report of a sitosterolemia kindred","volume":"12","author":"Brinton","year":"2018","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2021.07.001_bib0010","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.cca.2020.04.003","article-title":"Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations","volume":"507","author":"Kojima","year":"2020","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jacl.2021.07.001_bib0011","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1097\/00041433-200104000-00007","article-title":"Genetic basis of sitosterolemia","volume":"12","author":"Lee","year":"2001","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jacl.2021.07.001_bib0012","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1471-2350-7-13","article-title":"A detailed hapmap of the sitosterolemia locus spanning 69kb ;differences between Caucasians and African Americans","volume":"7","author":"Pandit","year":"2006","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jacl.2021.07.001_bib0013","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/S0022-2275(20)30155-3","article-title":"Heritability of plasma noncholesterol sterols and relationship to DNA sequenced polymorphism in ABCG5 and ABCG8","volume":"43","author":"Berge","year":"2002","journal-title":"J lipid Res"},{"key":"10.1016\/j.jacl.2021.07.001_bib0014","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.jacl.2018.11.002","article-title":"Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia","volume":"13","author":"Wang","year":"2019","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2021.07.001_bib0015","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1111\/jth.13777","article-title":"Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia","volume":"15","author":"Bastida","year":"2017","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jacl.2021.07.001_bib0016","doi-asserted-by":"crossref","first-page":"989","DOI":"10.5551\/jat.24679","article-title":"Potential effects of NPC1L1 polymorhisms in protecting against clinical disease in a Chinese family with sitosterolemia","volume":"21","author":"Hu","year":"2014","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2021.07.001_bib0017","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/ajh.23619","article-title":"Spesific macrothrombocytopenia\/hemolytic anemia associated with sitosterolemia","volume":"89","author":"Wang","year":"2014","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jacl.2021.07.001_bib0018","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacl.2020.04.011","article-title":"Genetic testing in dyslipidemia:a scientific statement from the National Lipid Association","author":"Brown","year":"2020","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2021.07.001_bib0019","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s00108-019-0635-2","article-title":"Sitosterolemia (Phytosterolemia)","volume":"60","author":"L\u00fctjohann","year":"2019","journal-title":"Internist"},{"key":"10.1016\/j.jacl.2021.07.001_bib0020","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/s11883-014-0424-2","article-title":"Sitosterolemia;Diagnosis, Investigation and management","volume":"16","author":"Escola-Gil","year":"2014","journal-title":"Curr Atheroscler Rep"},{"key":"10.1016\/j.jacl.2021.07.001_bib0021","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jpeds.2014.08.069","article-title":"Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia","volume":"166","author":"Othman","year":"2015","journal-title":"J Pediatr"},{"key":"10.1016\/j.jacl.2021.07.001_bib0022","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.atherosclerosis.2017.03.034","article-title":"Antiatherogenic potential of ezetimibe in sitosterolemia:beyond plant sterols lowering","volume":"260","author":"Ced\u00f3","year":"2017","journal-title":"Atherosclerosis"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S193328742100115X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S193328742100115X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T13:35:58Z","timestamp":1761831358000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S193328742100115X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S193328742100115X"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2021.07.001","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2021.07.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 National Lipid Association. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}