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Xanthomatosis

Known as: Xanthomatoses, Xanthomatosis [Disease/Finding], Xanthomata 
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a… 
National Institutes of Health

Related topics

Related topics

16 relations
Eruptive xanthomaHyperlipidemia, Familial CombinedIn BloodMicrobiological

Narrower (6)

Eyelid XanthomaWolman DiseaseXanthogranulomatous cholecystitisXanthogranulomatous sialadenitis

Broader (2)

Lipid Metabolism DisordersNutritional and Metabolic Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
PCSK9 R46L, Lower LDL, and Cardiovascular Disease Risk in Familial Hypercholesterolemia: A Cross-Sectional Cohort Study
Objective— Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a downregulator of the low density lipoprotein receptor. The… 
Highly Cited
2009
Highly Cited
2009
Xanthomata, Hypercholesterolemia, Angina Pectoris.
Highly Cited
2005
Highly Cited
2005
Familial hypercholesterolaemia commonly presents with Achilles tenosynovitis
Background: Patients with heterozygous familial hypercholesterolaemia (HeFH) develop tendon xanthomata (TX), most commonly in… 
Highly Cited
1999
Highly Cited
1999
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.
Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR… 
Highly Cited
1998
Highly Cited
1998
Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.
Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene and is usually associated with… 
Highly Cited
1994
Highly Cited
1994
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.
We report a Canadian kindred with a novel mutation in the apolipoprotein (apo) A-I gene causing analphalipoproteinemia. The 34-yr… 
Highly Cited
1986
Highly Cited
1986
Removal of low-density lipoproteins in patients by extracorporeal immunoadsorption.
1982
1982
Characterization of lipoprotein in a kindred with familial hypercholesterolemia.
To study possible consequences of decreased num- bers of cellular LDL receptors on plasma lipoproteins, we characterized the low… 
Highly Cited
1972
Highly Cited
1972
Intra- and extraosseous malignant histiocytoma (malignant fibrous xanthoma).
Twenty cases of malignant histiocytoma with skeletal involvement were analyzed, and the clinical, radiological, and pathological… 
Highly Cited
1964
Highly Cited
1964
THE SYNERGISM OF X-IRRADIATION AND CHOLESTEROL-FAT FEEDING ON THE DEVELOPMENT OF CORONARY ARTERY LESIONS.
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