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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.
2005
2005
Sitosterolaemia in Switzerland: molecular genetics links the US Amish‐Mennonites to their European roots
Sitosterolaemia is a rare autosomal recessive disease characterized by increased intestinal absorption of plant sterols… 
2004
2004
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.
Screening of 932 adults on the Pacific island of Kosrae for plasma plant sterol levels disclosed three subjects, two of them… 
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.
2001
2001
Effect of plant sterol‐enriched margarine on plasma lipids and sterols in subjects heterozygous for phytosterolaemia
Abstract. Stalenhoef AFH, Hectors M, Demacker PNM (University Medical Centre Nijmegen, Nijmegen, The Netherlands). Effect of… 
2001
2001
An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus
We characterized a new human ATP-binding cassette (ABC) transporter gene that is highly expressed in the liver. The gene, ABCG5… 
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… 
Review
1986
Review
1986
Fatty acid composition of individual plasma steryl esters in phytosterolemia and xanthomatosis
The bulk of the plasma plant sterol in phytosterolemia occurs in the esterified form and is carried mostly in the low and high… 
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.
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