[PDF] Top 20 ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA WITH XANTHOMATOSIS
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ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA WITH XANTHOMATOSIS
... Pediatrics Sercice of Enfant-Jesus iIos/)ital, Quebec City, Canada.. ABSTRACT.[r] ... See full document
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Molecular Diagnosis of Familial Hypercholesterolemia
... 46-Huijgen R, Stork ADM, Defesche JC, Peter J, Alonso R, Cuevas A, Kastelein JJP, Duran M, Stroes ESG. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous ... See full document
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The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels
... Phenotypic features of the disease’s heterozygous form (HeFH) are 2- to 3-fold raise in plasma LDL-cholesterol (C) concentrations, tendinous xanthomatosis and pre- mature atherosclerotic coronary heart disease ... See full document
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Genetic screening for homozygous and heterozygous familial hypercholesterolemia
... Fifty percent of men and 20% of women with heterozygous FH who do not receive appropriate treatment will present an acute coronary episode in the fifth decade. There is an increased risk of fatal coronary events also in ... See full document
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Familial hypercholesterolemia
... Main message Familial hypercholesterolemia affects 1 in 500 Canadians. Risk of a coronary event is high in these patients and is underestimated by risk calculators (eg, Framingham). Clinicians should screen ... See full document
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Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia
... Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant condition with a population prevalence of one in 300–500 (heterozygous) that is characterized by high levels of low-density lipoprotein ... See full document
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Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
... Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), ... See full document
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Impaired response of fibroblasts from patients with hyperapobetalipoproteinemia to acylation stimulating protein
... Acylation-stimulating protein (ASP) is a small, basic, human plasma protein that markedly stimulates triglyceride synthesis in human adipocytes and cultured human skin fibroblasts. The present studies examine the ... See full document
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Low-density lipoprotein cholesterol outcomes post-non-PCSK9i lipid-lowering therapies in atherosclerotic cardiovascular disease and probable heterozygous familial hypercholesterolemia patients
... heterozygous familial hypercholesterolemia (HeFH) achieving $50% reduction in low-density lipoprotein cholesterol (LDL-C) or reaching the LDL-C #70 mg/dL threshold, after initiating or modifying statin, ... See full document
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Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664 leu mutation in the LDL receptor gene
... familial hypercholesterolaemia (FH). All the heterozygotes had a raised level of plasma total cholesterol and low density lipoprotein cholesterol, but were remarkably free from premature coronary disease. ... See full document
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Hypocholesterolemic effects of mevinolin in patients with heterozygous familial hypercholesterolemia
... We have evaluated the hypolipidemic effects of mevinolin, a competitive inhibitor of 3- hydroxy-3-methylglutaryl coenzyme A reductase, the rate-limiting enzyme in cholesterol biosynthesis in 13 patients with heterozygous ... See full document
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Treatment of Familial Hypercholesterolemia in Children and Adolescents: Effect of Lovastatin
... Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: lack of effect on low-density lipoprotein concentrations or turnover. Ducobu J, Brasseur D, Chaudron JM,[r] ... See full document
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
... Abstract: Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and ... See full document
12
Optimal management of familial hypercholesterolemia: treatment and management strategies
... In many cases, such patients present first with cardiac symp- toms, and through screening, their hyperlipidemia may be discovered. It is recommended that any child with positive family history and risk factors who ... See full document
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Myeloperoxidase modulation by LDL apheresis in Familial Hypercholesterolemia
... whether hypercholesterolemia is associated with MPO up-regulation and whether MPO serum levels are affected by cholesterol ...with Familial Hypercholes- terolemia (FH) undergoing LDL (Low Density ... See full document
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Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolemia
... Abstract: High-dose potent statin therapy in combination with ezetimibe is now standard practice for the treatment of adult patients with heterozygous familial hypercholesterolemia (heFH), as the result of ... See full document
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Resolving the Genetic Etiology of Hypercholesterolemia in Familial Combined Hyperlipidemia
... Negative Familial Hypercholesterolemia (FH/M-) patients (cases) and 44 Mutation Positive Familial Hypercholesterolemia (FH/M+) patients (age- and sex-matched controls) were ... See full document
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Homozygous Familial Hypercholesterolemia: Case report and Review of Literature
... For lifestyle modification, strictly limit the food containing high cholesterol such as pork, beef, various animal internal organs and egg yolk etc. Eating more coarse food grains, fresh vegetables and fruits, increasing ... See full document
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Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia
... In the 17 patients considered in this study, the presence of corneal arcus was correlated with tissue cholesterol deposi- tion detectable by computed tomography. The patients in our study with more extensive ... See full document
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NOVEL THERAPEUTIC OPTIONS FOR FAMILIAL HYPERCHOLESTEROLEMIA
... CONCLUSION: Familial hypercholesterolemia is a disorder of LDL-C metabolism. FH patients are at a sharply increased lifetime risk for cardiovascular disease (CVD) and, if left untreated, clinical symptoms ... See full document
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