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… (More)
National Institutes of Health

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Highly Cited
2004
Highly Cited
2004
BACKGROUND Sitosterolemia is a recessively inherited disorder that results from mutations in either ABCG5 or G8 proteins, with… (More)
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Highly Cited
2004
Highly Cited
2004
Niemann-Pick C1 Like 1 (NPC1L1) is a protein localized in jejunal enterocytes that is critical for intestinal cholesterol… (More)
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2004
2004
Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism characterized by xanthomas and increased plasma… (More)
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Review
2003
Review
2003
Foods with plant stanol or sterol esters lower serum cholesterol levels. We summarize the deliberations of 32 experts on the… (More)
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Highly Cited
2002
Highly Cited
2002
Cholesterol and other sterols exit the body primarily by secretion into bile. In patients with sitosterolemia, mutations in… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations in the ATP-binding cassette (ABC) transporters ABCG5 and ABCG8 have recently been shown to cause the autosomal… (More)
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Review
2001
Review
2001
The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to… (More)
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Highly Cited
2000
Highly Cited
2000
In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking… (More)
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Highly Cited
1985
Highly Cited
1985
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and… (More)
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Highly Cited
1974
Highly Cited
1974
Although the usual diet may contain 150-250 mg of plant sterols, chiefly beta-sitosterol, only trace amounts of these sterols… (More)
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