{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:11:58Z","timestamp":1785496318625,"version":"3.56.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,1,16]],"date-time":"2014-01-16T00:00:00Z","timestamp":1389830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Phytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in <jats:italic>ABCG5<\/jats:italic> and <jats:italic>ABCG8<\/jats:italic> genes. A 9\u2010year\u2010old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of <jats:italic>ABCG5 and ABCG8<\/jats:italic> genes revealed a novel homozygous IVS10\u20101 G&gt;T mutation in <jats:italic>ABCG5<\/jats:italic> gene. Four of the 13 family members had xanthoma but they had neither hematologic abnormalities nor IVS10\u20101 G&gt;T mutation. Ezetimibe therapy reduced plant sterol levels in association with marked clinical improvement. Plant sterol levels and <jats:italic>ABCG5\/ABCG8<\/jats:italic> genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia. Pediatr Blood Cancer 2014; 61:1457\u20131459. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24934","type":"journal-article","created":{"date-parts":[[2014,1,16]],"date-time":"2014-01-16T14:44:51Z","timestamp":1389883491000},"page":"1457-1459","source":"Crossref","is-referenced-by-count":19,"title":["A novel mutation of <i>ABCG5<\/i> gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis"],"prefix":"10.1002","volume":"61","author":[{"given":"Z\u00fchre","family":"Kaya","sequence":"first","affiliation":[{"name":"Pediatric Hematology, Department of Pediatrics Medical School of Gazi University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau\u2010Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital, Genetic Consulting center Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asl\u0131","family":"Yorulmaz","sequence":"additional","affiliation":[{"name":"Department of Food Engineering Adnan Menderes University, Faculty of Engineering Ayd\u0131n Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziz","family":"Tekin","sequence":"additional","affiliation":[{"name":"Department of Food Engineering Ankara University, Faculty of Engineering Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fcrkiz","family":"G\u00fcrsel","sequence":"additional","affiliation":[{"name":"Pediatric Hematology, Department of Pediatrics Medical School of Gazi University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,16]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2007.049775"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9047"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107640"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197602262940907"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9126-2"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M400310-JLR200"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.10.026"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05599.x"},{"key":"e_1_2_3_10_1","first-page":"1392","article-title":"Clinical and molecular genetic analysis of a family with sitosterolemia and co\u2010existing erythrocyte and platelet abnormalities","volume":"91","author":"Su Y","year":"2006","journal-title":"Haematologica"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000327248"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/1076029611435090"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-06-429449"},{"key":"e_1_2_3_14_1","volume-title":"Official methods and recommended practices of the American Oil Chemists' Society","author":"AOCS","year":"1989"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.112.245480"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M600452-JLR200"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000237760.25195.e7"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.05973.x"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12311"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.5551\/jat.4614"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24934","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24934","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T02:31:24Z","timestamp":1696473084000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,16]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/pbc.24934"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24934","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,16]]}}}