{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T10:38:01Z","timestamp":1787654281105,"version":"build-2736575974"},"reference-count":23,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CCID"],"DOI":"10.2147\/ccid.s555492","type":"journal-article","created":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:30:12Z","timestamp":1764261012000},"page":"3189-3194","source":"Crossref","is-referenced-by-count":2,"title":["From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant"],"prefix":"10.2147","volume":"Volume 18","author":[{"given":"Yu","family":"Deng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henghong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongju","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1954-6499","authenticated-orcid":true,"given":"Chang-En","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2025,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1172\/JCI22186","volume":"114","author":"Yang","year":"2004","journal-title":"J Clin Invest"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"16237","DOI":"10.1073\/pnas.252582399","volume":"99","author":"Yu","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"7","DOI":"10.6065\/apem.2016.21.1.7","volume":"21","author":"Yoo","year":"2016","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"147596","DOI":"10.1016\/j.gene.2023.147596","volume":"879","author":"Jiang","year":"2023","journal-title":"Gene"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"2641","DOI":"10.3390\/ijms22052641","volume":"22","author":"Williams","year":"2021","journal-title":"Int J Mol Sci"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","volume":"290","author":"Berge","year":"2000","journal-title":"Science"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/s12944-024-02077-1","volume":"23","author":"Gu","year":"2024","journal-title":"Lipids Health Dis"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"791","DOI":"10.5551\/jat.RV17052","volume":"28","author":"Tada","year":"2021","journal-title":"J Atheroscler Thromb"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1297\/cpe.2022-0075","volume":"32","author":"Yoshida","year":"2023","journal-title":"Clin Pediatr Endocrinol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"783","DOI":"10.5551\/jat.RV17024","volume":"25","author":"Tada","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/bs.acc.2022.06.006","volume":"110","author":"Tada","year":"2022","journal-title":"Adv Clin Chem"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"2732","DOI":"10.1182\/blood-2013-06-510461","volume":"122","author":"Kanaji","year":"2013","journal-title":"Blood"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"6766","DOI":"10.2174\/0929867325666180705145900","volume":"26","author":"Bastida","year":"2019","journal-title":"Curr Med Chem"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"103","DOI":"10.3121\/cmr.2016.1294","volume":"14","author":"Renner","year":"2016","journal-title":"Clin Med Res"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"2167","DOI":"10.1161\/CIR.0000000000000297","volume":"132","author":"Gidding","year":"2015","journal-title":"Circulation"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"2277","DOI":"10.1093\/eurheartj\/ehad197","volume":"44","author":"Cuchel","year":"2023","journal-title":"Eur Heart J"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1210\/clinem\/dgae437","volume":"110","author":"Loh","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1002\/ajh.23619","volume":"89","author":"Wang","year":"2014","journal-title":"Am J Hematol"},{"key":"ref19","volume-title":"Endotext","year":"2023"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1016\/j.atherosclerosis.2013.11.043","volume":"232","author":"Gylling","year":"2014","journal-title":"Atherosclerosis"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"685","DOI":"10.5740\/jaoacint.SGEMoreau","volume":"98","author":"Moreau","year":"2015","journal-title":"J AOAC Int"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1053\/j.gastro.2006.02.027","volume":"130","author":"Salen","year":"2006","journal-title":"Gastroenterology"},{"key":"ref23","volume-title":"GeneReviews","year":"2013"}],"container-title":["Clinical, Cosmetic and Investigational Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/article\/download\/109346","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/article\/download\/109346","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:30:13Z","timestamp":1764261013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/from-xanthomas-to-genetic-diagnosis-a-case-report-of-sitosterolemia-in-peer-reviewed-fulltext-article-CCID"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":23,"URL":"https:\/\/doi.org\/10.2147\/ccid.s555492","relation":{},"ISSN":["1178-7015"],"issn-type":[{"value":"1178-7015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}