Results 41 to 50 of about 299,280 (207)

Variable and Severe Phenotypic Expression of the “Lebanese Allele” in Two Sisters with Familial Hypercholesterolemia

Vascular Health and Risk Management, 2021
Johnny Chahine, Sarah Kreykes, Jeremy R Van’t Hof, Daniel Duprez, Prabhjot Nijjar Cardiovascular Division, Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USACorrespondence: Prabhjot NijjarUniversity of Minnesota Medical ...
Chahine J, Kreykes S, Van't Hof JR, Duprez D, Nijjar P   +4 more
doaj  

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing:a population-based study [PDF]

, 2014
BACKGROUND: Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK.
Soutar, Anne K., Shona M Kerr, Jennifer Biggs, Anne K Soutar, Aitman, Timothy J., Porteous, David J, Morris, Andrew D., Morris, Andrew D, Scotland, Generation, Blair H Smith, Generation Scotland, Smith, Blair H, Anna F Dominiczak, Thomas, Ellen, Soutar, Anne K, Vandrovcova, Jana, Kerr, Shona M, Kerr, Shona M., Archie Campbell, Biggs, Jennifer, Norsworthy, Penny J, David J Porteous, Laurence Game, Thomas, Ellen R. A., Game, Laurence, Penny J Norsworthy, Smith, Blair H., Norsworthy, Penny J., Campbell, Archie, Porteous, David J., Aitman, Timothy J, Ellen RA Thomas, Dominiczak, Anna F, Smith, Blair H.; id_orcid, Jana Vandrovcova, ?, ?, Dominiczak, Anna F., Thomas, Ellen RA, Timothy J Aitman, Andrew D Morris   +39 more
core   +2 more sources

Case report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy

Frontiers in Genetics, 2023
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare and devastating genetic condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) leading to an increased risk of premature atherosclerosis ...
Meral Kayikcioglu, Hasan Selcuk Ozkan, Burcu Yagmur, Selen Bayraktaroglu, Asli Tetik Vardarli   +4 more
doaj   +1 more source

Racial Disparities in Modifiable Risk Factors and Statin Usage in Black Patients With Familial Hypercholesterolemia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Black men and women are at higher risk for, and suffer greater morbidity and mortality from, atherosclerotic cardiovascular disease (ASCVD) compared with adults of European Ancestry (EA).
Anandita Agarwala, Nathan Bekele, Elena Deych, Michael W. Rich, Aliza Hussain, Laney K. Jones, Amy C. Sturm, Karen Aspry, Elizabeth Nowak, Zahid Ahmad, Christie M. Ballantyne, Anne C. Goldberg   +11 more
doaj   +1 more source

Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia? [PDF]

, 2015
A previous report suggested that 88% of individuals in the general population with total cholesterol (TC) > 9.3 mmol/L have familial hypercholesterolaemia (FH). We tested this hypothesis in a cohort of 4896 UK civil servants, mean (SD) age 44 (±6) years,
Kivimaki, M, Boustred, C, Humphries, SE, Futema, M, Kumari, M   +4 more
core   +1 more source

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype

Molecular Genetics and Metabolism Reports
Background: Familial hypercholesterolemia (FH) results in elevated LDL cholesterol, contributing to atherosclerosis and early-onset cardiovascular disease.
Mai Thi Thanh Do, Dung Chi Vu, Mai Thi Chi Tran, Thao Phuong Bui, Ngoc Thi Bich Can, Khanh Ngoc Nguyen   +5 more
doaj   +1 more source

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Balkan Medical Journal, 2018
Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality.
Filiz Ekici, Salih Özçobanoğlu, Fırat Kardelen   +2 more
doaj   +1 more source

FAMILIAL HETEROZYGOUS HYPERCHOLESTEROLEMIA: A CASE REPORT

Wiadomości Lekarskie, 2019
Іntroduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder, caused by the defect of the gene, encoding the structure and function of the receptor for the apoprotein B/E. Patients with FH are predisposed to premature development of atherosclerosis and clinically manifested forms of cardiovascular diseases, in particular coronary ...
Vyacheslav М, Zhdan, Yevdokiia М, Kitura, Maryna Yu, Babanina, Oksana Ye, Kitura, Maksym V, Tkachenko   +4 more
openaire   +2 more sources

FEMORAL ATHEROSCLEROSIS IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA. INFLUENCE OF THE GENETIC DEFECT [PDF]

Atherosclerosis Supplements, 2008
Objective— The purpose of this study was to assess femoral atherosclerosis by ultrasound in patients with molecularly defined heterozygous familial hypercholesterolemia (FH) in comparison with matched control subjects and in relation to mutational class in the LDL receptor and apolipoprotein B (APOB)
Mireia, Junyent, Rosa, Gilabert, Daniel, Zambón, Miguel, Pocoví, Miguel, Mallén, Montserrat, Cofán, Isabel, Núñez, Fernando, Civeira, Diego, Tejedor, Emilio, Ros   +9 more
openaire   +3 more sources

Heterozygous c.1730G > C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia

, 2022
Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes.Case report: A 4 ...
KÖKSAL, Mehmet, Dogan, Mustafa, Eroz, Recep, Mustafa Doğan, Mehmet Koksal, Recep Eroz   +5 more
core   +1 more source