Results 11 to 20 of about 1,320 (173)

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   +4 more sources

Cerebral involvement in sitosterolemia [PDF]

Lipids in Health and Disease
Background Sitosterolemia, an autosomal recessive condition, is characterized by impaired metabolism of plant sterols. Clinical symptoms include skin xanthoma, premature atherosclerotic disease, arthritis, and unexplained hematological abnormalities ...
Fangjun Li, Xufang Xie, Shan Xu, Fuqing Zhou, Yaqing Yu, Xin Fang, Meihong Zhou, Min Zhu, Daojun Hong   +8 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   +2 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

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia [PDF]

Frontiers in Genetics
BackgroundSitosterolemia and Familial hypercholesterolemia (FH) represent two genetically distinct lipid metabolism disorders marked by disparate inheritance mechanisms and therapeutic responses. It is typically inherited in an autosomal dominant pattern
Abdulrahman Hummadi, Dhayf Alrahman Mutawwam, Dhayf Alrahman Mutawwam, Babajan Banaganapalli, Babajan Banaganapalli, Fai Alsubhi, Fai Alsubhi, Fai Alsubhi, Naji J. Aljohani, Naji J. Aljohani, Ali J. Alhagawy, Turki Algohani, Ibrahim Fallatah, Ibrahim Fallatah, Ibrahim Fallatah, Ibrahim Fallatah, Ibrahim Fallatah, Ibrahim Fallatah, Mohammed Y. Daghriry, Rawan K. Alharbi, Hassan Alhafaf, Madi Talal, Rania R. Hassan   +22 more
doaj   +2 more sources

Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis

Journal of Lipid Research, 1998
Sitosterolemia (phytosterolemia) is a rare autosomal recessively inherited disorder that is characterized by premature coronary artery disease, xanthomas, and increased plasma plant sterols and 5α-stanols.
Shailendra B. Patel, Akira Honda, Gerald Salen   +2 more
doaj   +2 more sources

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 Δ7-reductase in liver and mononuclear leukocytes

Journal of Lipid Research, 1998
Sitosterolemia is a recessively inherited disorder characterized by abnormally increased plasma and tissue plant sterol concentrations. Patients have markedly reduced whole body cholesterol biosynthesis associated with suppressed hepatic, ileal, and ...
Akira Honda, Gerald Salen, Lien B. Nguyen, G. Stephen Tint, Ashok K. Batta, Sarah Shefer   +5 more
doaj   +2 more sources

Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.

Journal of Lipid Research, 1985
We have measured plasma sterol composition in 14 subjects with sitosterolemia and xanthomatosis. In addition to elevated plasma phytosterol (campesterol 16 +/- 7 mg/dl and sitosterol 35 +/- 16 mg/dl) and normal to moderately high cholesterol levels (258 +
G Salen, P O Kwiterovich, Jr, S Shefer, G S Tint, I Horak, V Shore, B Dayal, E Horak   +7 more
doaj   +2 more sources

Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Mutations in the ABCG5 gene can cause sitosterolemia, which is a rare lipid metabolism disorder characterized by impaired regulation of phytosterols, leading to their excessive accumulation in tissues and organs, which triggers various ...
Xiaobing Sun, Jiong Wu, Pu Chen, Ruiqing He, Ting Li, Qingwen Zeng, Qi Hou   +6 more
doaj   +2 more sources

Sitosterolemia [PDF]

, 2020
INSERM
  +6 more sources