{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:48:42Z","timestamp":1771062522598,"version":"3.50.1"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation:<\/jats:title><jats:p>We report a 5-year-old girl with sitosterolemia who presented with xanthomas at 23 months of age. Her total cholesterol was 868 mg\/dL, and her plasma sitosterol level was 9.48 mg\/dL. Direct sequencing detected a homozygous mutation in gene<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Sitosterolemia is a unique disorder in which it is difficult to avoid premature atherosclerosis because of high sitosterol levels. cIMT measurement with arterial wall assessment may improve management.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0093","type":"journal-article","created":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T10:01:40Z","timestamp":1501754500000},"source":"Crossref","is-referenced-by-count":12,"title":["Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene"],"prefix":"10.1515","volume":"30","author":[{"given":"Hideaki","family":"Yagasaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takaya","family":"Nakane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takako","family":"Toda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kisho","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kouki","family":"Aoyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Ichikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanji","family":"Sugita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref91","first-page":"1029","article-title":"Carotid intimal medial thickness and its relation to endothelial dysfunction and echocardiographic changes in adolescents with type 1 diabetes","volume":"28","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jpeds.2014.08.069","article-title":"Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia","volume":"166","year":"2015","journal-title":"J Pediatr"},{"key":"ref291","first-page":"189","article-title":"Effect of age on carotid arterial intima-media thickness in childhood","volume":"19","year":"2004","journal-title":"Heart Vessels"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.jpeds.2007.03.057","article-title":"Subclinical atherosclerosis, but normal autonomic function after Kawasaki disease","volume":"151","year":"2007","journal-title":"J 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