Results 151 to 160 of about 1,240 (187)
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Cardiovascular Drug Reviews, 2002
ABSTRACTSitosterolemia was first described 28 years ago in two sisters. They had tendon xanthomas, normal plasma cholesterol levels, and elevated plant sterol levels. The high plant sterol levels were shown to be due to the increased absorption and delayed removal of plant sterols from the body. The increased absorption of plant sterols does not affect
Gerald Salen, Ashok K Batta
exaly +3 more sources
ABSTRACTSitosterolemia was first described 28 years ago in two sisters. They had tendon xanthomas, normal plasma cholesterol levels, and elevated plant sterol levels. The high plant sterol levels were shown to be due to the increased absorption and delayed removal of plant sterols from the body. The increased absorption of plant sterols does not affect
Gerald Salen, Ashok K Batta
exaly +3 more sources
Novel Donor Splice Site Mutation of ABCG5 Gene in Sitosterolemia
Molecular Genetics and Metabolism, 2002 In a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e ...
Ching-Wan Lam +2 more
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Journal of Clinical Lipidology, 2018
Sitosterolemia is associated with increases in intestinal sterol absorption, low-density lipoprotein cholesterol (LDL-C), and cardiovascular disease risk.We examined the relationship between hypercholesterolemia and sitosterolemia in a large population and report a new sitosterolemia case.Plasma sterol concentrations were measured by gas chromatography/
Eliot A Brinton +2 more
exaly +3 more sources
Sitosterolemia is associated with increases in intestinal sterol absorption, low-density lipoprotein cholesterol (LDL-C), and cardiovascular disease risk.We examined the relationship between hypercholesterolemia and sitosterolemia in a large population and report a new sitosterolemia case.Plasma sterol concentrations were measured by gas chromatography/
Eliot A Brinton +2 more
exaly +3 more sources
Orbital involvement of Sitosterolemia
Orbit, 2020Sitosterolemia is a rare inherited condition in which plant sterols are stored and deposited in the tissues. Described in 1974 by Battacharyya and Connor, it is characterized by tendon and tuberous xanthomas and a propensity to premature coronary atherosclerosis. We present the first reported case of the disease being manifest in the periorbital region.
Linda O, Okafor +4 more
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Sitosterolemia: Diagnosis, Investigation, and Management
Current Atherosclerosis Reports, 2014 Sitosterolemia is a rare autosomal recessively inherited disease caused by mutations affecting ABCG5 or ABCG8, which are located on human chromosome band 2p21. Around 100 cases have been reported in the literature. Sitosterolemic patients typically exhibit a 30-fold to 100-fold increase in plasma concentrations of plant sterols.
Joan Carles Escola-Gil +2 more
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SITOSTEROLEMIA (FITOSTEROLEMIA)
Revista da Sociedade de Cardiologia do Estado de São Paulo, 2021A sitosterolemia foi descrita como uma doença recessiva rara, associada com aterosclerose prematura e grave. A sitosterolemia é causada pelo aumento da absorção intestinal e diminuição da excreção biliar de esteróis resultantes de mutações bialélicas em ABCG5 ou ABCG8, que codificam o transportador de efluxo de esterol ABCG5 e ABCG8, resultando em ...
Celma Muniz Martins +2 more
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Features of Sitosterolemia in Children
The American Journal of Cardiology, 2020Sitosterolemia is a rare lipid metabolism disease with heterogeneous manifestations. Atherosclerosis can occur in children, and therefore, early detection, diagnosis, and treatment of this disease are important. We studied 18 pediatric patients with sitosterolemia who showed a significant increase in plasma lipid levels and analyzed their clinical ...
Liyuan, Xu +8 more
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Tuberous Xanthomas in Sitosterolemia
Pediatric Dermatology, 2000Abstract: Sitosterolemia is an autosomal recessive lipid disorder in which plasma plant sterol levels are extremely elevated and cholesterol levels are often elevated but may be normal. Clinically sitosterolemia is characterized by xanthomas, premature vascular disease, and arthritis.
M, Alam +3 more
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β-Sitosterolemia and Xanthomatosis
New England Journal of Medicine, 1976Recently, Bhattacharyya and Connor described in two sisters a lipid-storage disease, β-sitosterolemia and xanthomatosis,1 with tendon and tuberous xanthomas appearing at an early age despite normal...
R S, Shulman +3 more
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Sitosterolemia's stomatocytosis and macrothrombocytopenia
Blood, 2012![Figure][1] A 47-year-old white male was referred for chronic thrombocytopenia of 80-90 × 109/L and splenomegaly since 1997. He had been treated unsuccessfully, and mistakenly, for immune thrombocytopenia (steroids, rituximab, romiplostim, and anti-D that produced severe hemolysis ...
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