{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:17:15Z","timestamp":1788355035099,"version":"build-2803163510"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,2]]},"DOI":"10.7759\/cureus.115644","type":"journal-article","created":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T12:30:57Z","timestamp":1788352257000},"source":"Crossref","is-referenced-by-count":0,"title":["Biallelic ABCG8 Variants or Biochemical Evidence of Sitosterolemia: A Case Report"],"prefix":"10.7759","author":[{"given":"Joseph","family":"Burns","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Zachariah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurpra.2021.08.009","article-title":"Pediatric dyslipidemia and screening recommendations","volume":"17","author":"Buterbaugh JS","year":"2021","unstructured":"Buterbaugh JS. Pediatric dyslipidemia and screening recommendations. J Nurse Pract. 2021, 17:1178-82. 10.1016\/j.nurpra.2021.08.009","journal-title":"J Nurse Pract"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/medicina59081434","article-title":"Dyslipidemia in pediatric patients: a cross-sectional study","volume":"59","author":"Constantin AT","year":"2023","unstructured":"Constantin AT, Delia C, Tudor LM, Rosca I, Irimie AD, N\u0103stase L, Gherghina I. Dyslipidemia in pediatric patients: a cross-sectional study. Medicina (Kaunas). 2023, 59:1434. 10.3390\/medicina59081434","journal-title":"Medicina (Kaunas)"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.10.007","article-title":"Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum","volume":"93","author":"Rahalkar AR","year":"2008","unstructured":"Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab. 2008, 93:282-94. 10.1016\/j.ymgme.2007.10.007","journal-title":"Mol Genet Metab"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab568","article-title":"Case studies in pediatric lipid disorders and their management","volume":"106","author":"Ashraf AP","year":"2021","unstructured":"Ashraf AP, Sunil B, Bamba V, et al.. Case studies in pediatric lipid disorders and their management. J Clin Endocrinol Metab. 2021, 106:3605-20. 10.1210\/clinem\/dgab568","journal-title":"J Clin Endocrinol Metab"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2020.03.057","article-title":"Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects","volume":"75","author":"Beheshti SO","year":"2020","unstructured":"Beheshti SO, Madsen CM, Varbo A, Nordestgaard BG. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects. J Am Coll Cardiol. 2020, 75:2553-66. 10.1016\/j.jacc.2020.03.057","journal-title":"J Am Coll Cardiol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1527-3466.2002.tb00096.x","article-title":"Sitosterolemia","volume":"20","author":"Salen G","year":"2002","unstructured":"Salen G, Patel S, Batta AK. Sitosterolemia. Cardiovasc Drug Rev. 2002, 20:255-70. 10.1111\/j.1527-3466.2002.tb00096.x","journal-title":"Cardiovasc Drug Rev"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s11883-023-01092-4","article-title":"Update on sitosterolemia and atherosclerosis","volume":"25","author":"Rocha VZ","year":"2023","unstructured":"Rocha VZ, Tada MT, Chacra AP, Miname MH, Mizuta MH. Update on sitosterolemia and atherosclerosis. Curr Atheroscler Rep. 2023, 25:181-7. 10.1007\/s11883-023-01092-4","journal-title":"Curr Atheroscler Rep"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.11.010","article-title":"ABCG5\/ABCG8 in cholesterol excretion and atherosclerosis","volume":"428","author":"Yu XH","year":"2014","unstructured":"Yu XH, Qian K, Jiang N, Zheng XL, Cayabyab FS, Tang CK. ABCG5\/ABCG8 in cholesterol excretion and atherosclerosis. Clin Chim Acta. 2014, 428:82-8. 10.1016\/j.cca.2013.11.010","journal-title":"Clin Chim Acta"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0000000000000734","article-title":"Recent advances in ABCG5 and ABCG8 variants","volume":"32","author":"Fong V","year":"2021","unstructured":"Fong V, Patel SB. Recent advances in ABCG5 and ABCG8 variants. Curr Opin Lipidol. 2021, 32:117-22. 10.1097\/MOL.0000000000000734","journal-title":"Curr Opin Lipidol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-026-51952-7","article-title":"ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study","volume":"16","author":"Dong R","year":"2026","unstructured":"Dong R, Wang X, Liu C, Liu G. ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study. Sci Rep. 2026, 16:21571. 10.1038\/s41598-026-51952-7","journal-title":"Sci Rep"},{"key":"ref11","unstructured":"NM_022437.3(ABCG8).c.1505C&gt;T (p.Pro502Leu). (2024). Accessed: May 29, 2026: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/2050126\/."},{"key":"ref12","unstructured":"NM_022437.3(ABCG8).c.55G&gt;C (p.Asp19His). Accessed: May 29, 2026: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/4975\/."},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2021.11.015","article-title":"Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia","volume":"16","author":"Xia Y","year":"2022","unstructured":"Xia Y, Duan Y, Zheng W, et al.. Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia. J Clin Lipidol. 2022, 16:40-51. 10.1016\/j.jacl.2021.11.015","journal-title":"J Clin Lipidol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/s12944-024-02077-1","article-title":"Gene variants and clinical characteristics of children with sitosterolemia","volume":"23","author":"Gu R","year":"2024","unstructured":"Gu R, Wang H, Wang CL, et al.. Gene variants and clinical characteristics of children with sitosterolemia. Lipids Health Dis. 2024, 23:83. 10.1186\/s12944-024-02077-1","journal-title":"Lipids Health Dis"},{"key":"ref15","article-title":"Lipid Screening in Youth","author":"Burns J","year":"2000","unstructured":"Burns J, Zachariah JP. Lipid Screening in Youth. Feingold KR, Adler RA, Ahmed SF, et al. (ed): Endotext, South Dartmouth (MA); 2000."},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2107C","article-title":"Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report","volume":"128","author":"Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents","year":"2011","unstructured":"Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents, National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics. 2011, 128:S213-56. 10.1542\/peds.2009-2107C","journal-title":"Pediatrics"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/523059-biallelic-abcg8-variants-or-biochemical-evidence-of-sitosterolemia-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T12:30:58Z","timestamp":1788352258000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/523059-biallelic-abcg8-variants-or-biochemical-evidence-of-sitosterolemia-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,2]]},"references-count":16,"URL":"https:\/\/doi.org\/10.7759\/cureus.115644","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9,2]]}}}