Results 151 to 160 of about 1,320 (173)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
Update on Sitosterolemia and Atherosclerosis
Current Atherosclerosis Reports, 2023The purpose of this review was to summarize important and updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder consisting of high levels of plasma plant sterols. This sterol storage condition is caused by biallelic loss-of-function genetic variants in either ABCG5 or ABCG8, leading to increased intestinal absorption and ...
Viviane Zorzanelli Rocha +4 more
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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 +6 more
openaire +2 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 +6 more
openaire +2 more sources
SITOSTEROLEMIA – EPIDEMIOLOGIA, DIAGNÓSTICOE TRATAMENTO
Revista da Sociedade de Cardiologia do Estado de São Paulo, 2021A sitosterolemia é uma rara doença genética recessiva caracterizada por aumento da absorção intestinal e diminuição da excreção biliar de esteróis resultantes de mutações nos genes ABCG5 ou ABCG8 de forma homozigótica ou como heterozigoto composto. O fenótipo é variável, mas classicamente é relacionado com xantomas e doença ateros-clerótica prematura ...
Elaine Reis Coutinho +1 more
openaire +1 more source
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 ...
openaire +2 more sources
[Sitosterolemia (phytosterolemia)].
Der Internist, 2019Sitosterolemia or phytosterolemia is a rare autosomal recessive hereditary lipid storage disorder. It is caused by homozygous or compound heterozygous mutations in one of the two ABCG5 and ABCG8 genes encoding the intestinal and hepatic heterodimer ABCG5 (sterolin 1)/ABCG8 (sterolin 2) efflux transporters.
openaire +2 more sources