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Tendon xanthomatosis

Known as: TENDON XANTHOMA, Tendon xanthomas, XANTHOMA TENDINOSUM 
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee… 
National Institutes of Health

Related topics

Related topics

1 relation
Hypercholesterolemia, Familial

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the… 
Review
2009
Review
2009
Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis.
Highly Cited
2005
Highly Cited
2005
Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL
Highly Cited
2004
Highly Cited
2004
Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment
Background.  Severe hereditary hypercholesterolaemia is most frequently due to familial hypercholesterolaemia (FH), caused by… 
Highly Cited
2000
Highly Cited
2000
Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene That Cause a Receptor-Defective or Receptor-Negative Phenotype
Seventy-one mutations of the low density lipoprotein (LDL) receptor gene were identified in 282 unrelated Italian familial… 
1998
1998
Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations.
Highly Cited
1995
Highly Cited
1995
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions.
OBJECTIVE The purpose of this study was to evaluate the MR imaging characteristics of Achilles tendons in patients at risk for… 
1994
1994
Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.
Highly Cited
1993
Highly Cited
1993
Musculoskeletal manifestations in hyperlipidaemia: a controlled study.
Eighty eight patients with hyperlipidaemia (81 white patients from South Africa and seven patients of mixed race from the West… 
Highly Cited
1987
Highly Cited
1987
Hyperapobetalipoproteinemia in a Kindred with Familial Combined Hyperlipidemia and Familial Hypercholesterolemia
A child showed a type lib llpoproteln pattern and triglycerlde-enrlched cutaneous xanthomas before 1 year of age. The proband and… 
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