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Sitosterolemia

Known as: Pseudohomozygous familial hypercholesterolemia, Phytosterolemia, Plant sterol storage disease 
An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin… 
National Institutes of Health

Related topics

Related topics

17 relations
ABCG5 geneABCG5, ARG408TERABCG5, ARG419PROABCG5, GLU77TER

Broader (4)

HypercholesterolemiaIntestinal DiseasesLipid Metabolism, Inborn ErrorsPhytosterols

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Plant sterols increased IL-6 and TNF-α secretion from macrophages, but to a lesser extent than cholesterol.
AIM Phytosterolemia is an inherited disorder characterized by hypercholesterolemia and premature atherosclerosis, together with… 
Review
2007
Review
2007
Phytosterols and vascular disease
Purpose of review Phytosterols and stanols are plant derivatives that compete with cholesterol for intestinal absorption and… 
2006
2006
Effect of sitosterol on the rate-limiting enzymes in cholesterol synthesis and degradation
Attempts were made to develop an animal model for phytosterolemia. Infusion of Intralipid containing 0.2% sitosterol in rats gave… 
Review
2004
Review
2004
Relevance of hereditary defects in lipid transport proteins for the pathogenesis of cholesterol gallstone disease
In the formation of cholesterol gallstones, cholesterol hypersecretion into bile causing cholesterol supersaturation and… 
Review
2003
Review
2003
A 19-year-old man with myocardial infarction and sitosterolemia.
This is a case report of a 19-year-old man who presented with acute myocardial infarction with obstruction of one coronary artery… 
Review
2001
Review
2001
Plasma non-cholesterol sterols.
1998
1998
HMG-CoA reductase is not the site of the primary defect in phytosterolemia.
Phytosterolemia is an autosomal recessive disorder characterized by the excessive absorption, reduced excretion, and consequent… 
1986
1986
Usefulness of gas chromatographic profiles of plasma total lipids in diagnosis of phytosterolemia.
1985
1985
The presence of 5 alpha-sitostanol in the serum of a patient with phytosterolemia, and its biosynthesis from plant steroids in rats with bile fistula.
Highly Cited
1936
Highly Cited
1936
Der Stoffwechsel des isolierten Fettgewebes
fih ~ die AtmungsgrSl3e. Dieser Weft steht flit die einzelnen Organe naeh Durehschnittsberechnungen versehiedenster Autoren a… 
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