{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:59:11Z","timestamp":1790801951191,"version":"4.1.0"},"reference-count":3,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T00:00:00Z","timestamp":1716940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sitosterolemia is a rare autosomal recessive disease that lead to an increase in the intestinal absorption and decreased biliary excretion plant sterols. It is caused by mutations in <jats:italic>ABCG5<\/jats:italic> and <jats:italic>ABCG8<\/jats:italic> genes, encoring sterolin\u20101 and sterolin\u20102 protein. The main clinical manifestations are xanthomas, premature atherosclerosis, arthralgia and, of note, hematological alterations. As in many other systemic diseases, hematological manifestations may be the only notable finding, for this reason we want to highlight the importance of multidisciplinary work and raise awareness of this rare disease that can lead to serious consequences if not treated prematurely. Here we present a case of this disease as well as its entire diagnostic process developed from a simple analytical alteration.<\/jats:p>","DOI":"10.1111\/ijlh.14322","type":"journal-article","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T09:14:11Z","timestamp":1716974051000},"page":"985-987","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4571-8892","authenticated-orcid":false,"given":"Rebeca","family":"Jurado Tapiador","sequence":"first","affiliation":[{"name":"Hematology Laboratory ICO\u2010IJC\u2010Hospital Germans Trias i Pujol, UAB  Badalona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Hematology\u2010Core, Clinical Analysis and Biochemistry Service Germans Trias i Pujol University Hospital  Badalona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Hernandez\u2010Rodriguez","sequence":"additional","affiliation":[{"name":"Hematology Laboratory ICO\u2010IJC\u2010Hospital Germans Trias i Pujol, UAB  Badalona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2021.07.001"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.5551\/jat.RV17052"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2174\/0929867325666180705145900"}],"container-title":["International Journal of Laboratory Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijlh.14322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T13:07:12Z","timestamp":1731676032000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijlh.14322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,29]]},"references-count":3,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/ijlh.14322"],"URL":"https:\/\/doi.org\/10.1111\/ijlh.14322","archive":["Portico"],"relation":{},"ISSN":["1751-5521","1751-553X"],"issn-type":[{"value":"1751-5521","type":"print"},{"value":"1751-553X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,29]]},"assertion":[{"value":"2023-11-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}