|1|Hepatic or intestinal ABCG5 and ABCG8 are sufficient to block the development of sitosterolemia. (25527605)
|2|Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. (25444527)
Othman R.A.... Jones P.J.
|3|Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. (24423340)
Heum Park J.... Yoo E.G.
|4|Ezetimibe treatment should be considered for patients with sitosterolemia. (24839218)
Hu M.... Tomlinson B.
|5|Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (23926302)
Kanaji T.... Newman P.J.
|6|Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. (24166850)
Wang Z.... Ruan C.
|7|Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism. (20543520)
Tsubakio-Yamamoto K.... Yamashita S.
|8|Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8. (18796403)
Tang W.... Yu L.
|9|Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. (18156627)
Kruit J.K.... Kuipers F.
|10|Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. (18822021)
LA1tjohann D.... Musliner T.
|11|Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. (17228349)
Kratz M.... Rust S.
|12|Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
Salen G.... Patel S.B.
|13|Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. (17018391)
Su Y.... Ruan C.
|14|A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. (16507104)
Pandit B.... Patel S.B.
|15|Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
Connor W.E.... Gerhard G.
|16|A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. (15040800)
Klett E.L.... Patel S.B.
|17|Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor. (14699507)
PlAPsch T.... Schwartz M.
|18|Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. (14769702)
Salen G.... Musser B.
|19|Phenotypic heterogeneity of sitosterolemia. (15375183)
Wang J.... Hegele R.A.
|20|Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? (15599566)
Sudhop T.... von Bergmann K.
|21|A 19-year-old man with myocardial infarction and sitosterolemia. (12879952)
Katayama T.... Ogawa S.
|22|Novel donor splice site mutation of ABCG5 gene in sitosterolemia. (11855938)
Lam C.W.... Chan Y.W.
|23|Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (11668628)
Hubacek J.A.... Hobbs H.H.
|24|Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. (11425042)
Yoshida A.... Miyazaki K.
|25|Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. (9610773)
Patel S.B.... Salen G.
|26|Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. (9460081)
Nguyen L.B.... Batta A.K.
|27|Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol delta7-reductase in liver and mononuclear leukocytes. (9469584)
Honda A.... Shefer S.
|28|Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. (9727073)
Patel S.B.... Brownstein M.J.
|29|beta-Sitosterolemia with generalized eruptive xanthomatosis. (9152615)
Hidaka H.... Kikkawa R.
|30|Coronary bypass grafts in a young girl with sitosterolemia. (8781841)
Kolovou G.... Cokkinos D.V.
|31|A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia. (8529322)
Parsons H.G.... Roncari D.
|32|Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis. (8028508)
Nguyen L.B.... Lerner S.
|33|Biochemical studies of inherited diseases related to abnormal cholesterol metabolism. II: Absence of unusual C28 and C29 bile acid homologs in bile and urine of sitosterolemia. (7896564)
Ohshima A.... Hoshita T.
|34|Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. (7852865)
Salen G.... Ness G.C.
Salen G.... Shore V.
|36|Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. (1816322)
Nguyen L.B.... Tint G.S.
|37|Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function. (2325562)
Nguyen L.B.... Ness G.C.
|38|A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
Nguyen L.B.... Rani I.
|39|Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. (2380636)
Hidaka H.... Tamura A.
|40|Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis. (2600539)
Salen G.... Batta A.K.
|41|The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis. (3357417)
Nguyen L.B.... McNamara D.J.
|42|Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase. (3143743)
Shefer S.... Hauser S.
|43|Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. (3711338)
Gregg R.E.... Brewer H.B.
|44|Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. (4067433)
Salen G.... Shefer S.
|45|Synthesis and structure of 26 (or 27)-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24S,25 xi-pentol isolated from the urine and feces of a patient with sitosterolemia and xanthomatosis. (2985722)
Dayal B.... Salen G.
|46|Identification of 5 alpha-stanols in patients with sitosterolemia and xanthomatosis: stereochemistry of the protonolysis of steroidal organoboranes. (6297129)
Dayal B.... Salen G.
|47|A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
Wang C.... Tse T.F.
|48|Beta-sitosterolemia and xanthomatosis. (1246333)
Shulman R.S.... Fredrickson D.S.
|49|Beta-Sitosterolemia and xanthomatosis. (781555) |1976|
|50|Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
Bhattacharyya A.K.... Connor W.E.