{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:21:31Z","timestamp":1777803691342,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T00:00:00Z","timestamp":1347926400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:p>Vanishing white matter disease is one of the most prevalent leukodystrophies in childhood. It is caused by mutations in any of the genes encoding the 5 subunits of the eukaryotic translation initiation factor 2B (eIF2B), EIF2B1 through EIF2B5. Phenotypic variation is wide and it may affect people of all ages. Here we present a child with vanishing white matter who had hepatomegaly and hypertriglyceridemia attacks along with neurologic deterioration episodes. He was found heterozygous for the 2 mutations c.817 A&gt;C, p.Lys273Gln and c.939_948del, p.Asp314ProfsX23 in the gene EIF2B2. Until today, this association was not defined in the literature.<\/jats:p>","DOI":"10.1177\/0883073812458711","type":"journal-article","created":{"date-parts":[[2012,9,19]],"date-time":"2012-09-19T20:14:38Z","timestamp":1348085678000},"page":"1509-1512","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks"],"prefix":"10.1177","volume":"28","author":[{"given":"Ozlem","family":"Unal","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burce","family":"Ozgen","sequence":"additional","affiliation":[{"name":"Department of Radiology, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diclehan","family":"Orhan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Pathology, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysegul","family":"Tokatli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burcu Ozturk","family":"Hismi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Dursun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgay","family":"Coskun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Serap","family":"Kalkanoglu-Sivri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,9,18]]},"reference":[{"key":"bibr1-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.845"},{"key":"bibr2-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e318203ae74"},{"key":"bibr3-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70440-9"},{"key":"bibr4-0883073812458711","doi-asserted-by":"publisher","DOI":"10.2217\/fnl.11.63"},{"key":"bibr5-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181f2eafa"},{"key":"bibr6-0883073812458711","volume-title":"Gene Reviews","author":"Schiffmann R","year":"1993"},{"key":"bibr7-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0026992"},{"key":"bibr8-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1042\/BST0371298"},{"key":"bibr9-0883073812458711","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f962ae"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812458711","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812458711","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812458711","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:27Z","timestamp":1777495047000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812458711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,18]]},"references-count":9,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1177\/0883073812458711"],"URL":"https:\/\/doi.org\/10.1177\/0883073812458711","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,18]]}}}