Hypercholesterolemia in children and adolescents: focus on the familial variant
Familial hypercholesterolemia is characterized by a significant increase in serum low-density lipoprotein cholesterol concentration, which even in the absence of other risk factors leads to the development of atherosclerotic vascular lesions beginning in
I. N. Zakharova +9 more
doaj +1 more source
Summary: Background: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed to
Kelly D Myers, BS +18 more
doaj +1 more source
Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects [PDF]
The profoundly elevated concentrations of low-density lipoproteins (LDL) present in homozygous familial hypercholesterolemia lead to symptomatic cardiovascular disease and death by early adulthood.
Brewer, HB +6 more
core +1 more source
Characterization of hepatic low density lipoprotein binding and cholesterol metabolism in normal and homozygous familial hypercholesterolemic subjects [PDF]
Patients with familial hypercholesterolemia have elevated levels of plasma low density lipoproteins (LDL), increased hepatic synthesis of apolipoprotein B-containing lipoproteins, defective binding of low density lipoproteins to fibroblasts, and ...
Brewer, HB +4 more
core +2 more sources
Familial hypercholesterolemia is a metabolic disease caused by a mutation in the low-density lipoprotein receptor gene. It carries early atherosclerosis and coronary artery disease risks.
Mehmet Oncul +4 more
doaj +1 more source
New approaches in detection and treatment of familial hypercholesterolemia [PDF]
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations
Hartgers, ML, Hovingh, GK, Ray, KK
core +3 more sources
Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou +13 more
wiley +1 more source
Liver Transplantation to Provide Low-Density-Lipoprotein Receptors and Lower Plasma Cholesterol in a Child with Homozygous Familial Hypercholesterolemia [PDF]
A six-year-old girl with severe hypercholesterolemia and atherosclerosis had two defective genes at the low-density-lipoprotein (LDL) receptor locus, as determined by biochemical studies of cultured fibroblasts.
Cummings +9 more
core +1 more source
Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia
Aim. To assess the detection rate of familial hypercholesterolemia among outpatients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows ...
Z. F. Kim +3 more
doaj +1 more source
LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives [PDF]
Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates.
Al-Allaf, FA +5 more
core +3 more sources

