Results 71 to 80 of about 1,320 (173)
Familial Spinal Xanthomatosis with Sitosterolemia.
Internal Medicine, 1992 A family with multiple spinal xanthomas and sitosterolemia is described. A 48-year-old woman presented with paraplegia due to multiple intradural extramedullary tumors. The patient also showed marked tendon xanthomas and analysis of sterol composition in both plasma and the xanthoma established the diagnosis of the rare inherited metabolic disease ...
H, Hidaka +9 more
openaire +3 more sources
HMG-CoA reductase is not the site of the primary defect in phytosterolemia
Journal of Lipid Research, 1998 Phytosterolemia is an autosomal recessive disorder characterized by the excessive absorption, reduced excretion, and consequent high tissue and plasma levels of plant sterols, by the presence of tendon xanthomas, and by premature atherosclerosis. Low HMG-
G.M.B. Berger +9 more
doaj +1 more source
96 Homozygous ABCG8 mutation in a 14-year-old boy with sitosterolemia [PDF]
, 2021 Ana-Maria Meašić +6 more
openalex +1 more source
Ezetimibe normalizes metabolic defects in mice lacking ABCG5 and ABCG8
Journal of Lipid Research, 2005 The ATP binding cassette transporters ABCG5 (G5) and ABCG8 (G8) limit the accumulation of neutral sterols by restricting sterol uptake from the intestine and promoting sterol excretion into bile.
Liqing Yu +4 more
doaj +1 more source
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia [PDF]
Clinical Medicine & Research, 2016 A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous
Christian, Renner +2 more
openaire +2 more sources
Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia
JIMD Reports, 2020 Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8, which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive
Sharmila Kiss +6 more
doaj +1 more source
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia [PDF]
American Journal of Hematology, 2014 Sitosterolemia (phytosterolemia) is a rare inherited sterol storage disorder, characterized by significantly elevated plasma levels of plant sterols. The clinical features of sitosterolemia are xanthomas, premature atherosclerosis, arthritis, and, occasionally, liver function impair and hematologic abnormalities. This disorder is caused by mutations of
Zhaoyue, Wang +7 more
openaire +2 more sources
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.
Escola-Gil, JC +5 more
openaire +3 more sources
Three‐generation female cohort with macrocytic anemia and iron overload
American Journal of Hematology, Volume 100, Issue 1, Page 133-138, January 2025.
Alexander A. Boucher +5 more
wiley +1 more source
Journal of Lipid Research, 2002 Mammalian physiological processes can distinguish between dietary cholesterol and non-cholesterol, retaining very little of the non-cholesterol in their bodies.
Kangmo Lu +6 more
doaj +1 more source