Results 11 to 20 of about 1,240 (187)

Features of chinese patients with sitosterolemia [PDF]

Lipids in Health and Disease, 2022
Background Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes.
Zhizi Zhou, Xueying Su, Yanna Cai, Tzer Hwu Ting, Wen Zhang, Yunting Lin, Aijing Xu, Xiaojian Mao, Chunhua Zeng, Li Liu, Xiuzhen Li   +10 more
doaj   +4 more sources

Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia

Clinical and Translational Discovery
Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism. Patients with sitosterolemia may exhibit diverse, distinct clinical characteristics.
Mengjia Qian, Pu Chen, Yanxia Zhan, Bijun Zhu, Lingyan Wang, Miaomiao Zhang, Yujie Zhou, Hao Chen, Lili Ji, Yunfeng Cheng   +9 more
doaj   +3 more sources

Sitosterolemia: A Case Report and a Concise Literature Review

Case Reports in Endocrinology, 2023
Background. Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various
Moeber M. Mahzari
doaj   +2 more sources

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.

PLoS ONE, 2020
BackgroundSitosterolemia is an inherited lipid disorder which presents with elevated serum sitosterol and can result in an increased risk of premature cardiovascular disease. However, sitosterol cannot be accurately measured by routine diagnostic assays,
Joon Hee Lee, Da Young Song, Sun-Hee Jun, Sang Hoon Song, Choong Ho Shin, Chang-Seok Ki, Kyunghoon Lee, Junghan Song   +7 more
doaj   +2 more sources

Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2016
Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have ...
Eun-Gyong Yoo
doaj   +2 more sources

Sitosterolemia.

Journal of Lipid Research, 1992
Sitosterolemia is a rare inherited lipid storage disease characterized chemically by the accumulation of plant sterols and 5 alpha-saturated stanols in plasma and tissues. Very low cholesterol synthesis due to a deficiency of HMG-CoA reductase associated
G Salen, S Shefer, L Nguyen, GC Ness, GS Tint, V Shore   +5 more
doaj   +3 more sources

A Clinical Case of Probable Sitosterolemia. [PDF]

Int J Mol Sci
Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering ...
Terasaki M, Izumi M, Yamagishi SI.
europepmc   +4 more sources

Phenotypic heterogeneity of sitosterolemia [PDF]

Journal of Lipid Research, 2004
Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism characterized by xanthomas and increased plasma concentrations of plant sterols, such as sitosterol.
Jian Wang, Tisha Joy, David Mymin, Jiri Frohlich, Robert A. Hegele   +4 more
doaj   +3 more sources

A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol [PDF]

BMC Medicine, 2004
Background Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol ...
Oude-Elferink Ronald, Looije Norbert, Klein Richard, Chen Jianliang, Yu Hongwei, Batta Ashok K, Shefer Sarah, Altenburg Michael, Lee Mi-Hye, Vink Edwin, Kosters Astrid, Lu Kangmo, Klett Eric L, Groen Albert K, Maeda Nobuyo, Salen Gerald, Patel Shailendra B   +16 more
doaj   +2 more sources

SITOSTEROLEMIA – RARE CAUSE OF HYPERCHOLESTEROLEMIA IN CHILD

Journal of Experimental and Molecular Biology, 2019
Sitosterolemia is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, leading to increased intestinal absorption and to a diminution of the biliary excretion of plant sterols (sitosterol, campesterol, stigmasterol) and cholesterol.
Antoneta Dacia Petroaie
doaj   +2 more sources