Familial Hypercholesterolemia

Familial hypercholesterolemia in children

Adolescent / Humans / Child / Cholesterol / Female / Male / Clinical Sciences / Disease Progression / Familial Hypercholesterolemia / Cohort Studies / Male / Clinical Sciences / Disease Progression / Familial Hypercholesterolemia / Cohort Studies

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Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors

Atherosclerosis / Risk Management / Adolescent / Humans / Child / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Cardiovascular system / Adult / Cardiovascular Risk Factor / Angina pectoris / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Cardiovascular system / Adult / Cardiovascular Risk Factor / Angina pectoris / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive

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Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison

Atherosclerosis / Adolescent / Comparative Study / Cell Culture / Italy / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups

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Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison

Atherosclerosis / Adolescent / Comparative Study / Cell Culture / Italy / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups / Lipids / Humans / Child / Mutation / Female / Male / Hypercholesterolemia / Infant / Phenotype / Clinical Sciences / Prevalence / Risk Factor / Digestive System / Adult / Familial Hypercholesterolemia / Coronary Artery Disease / Autosomal Recessive / Age Groups

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Una nueva mutación en el promotor del gen del receptor de las lipoproteínas de baja densidad asociada a hipercolesterolemia familiar en homocigosis y heterocigosis

Cardiovascular disease / Familial Hypercholesterolemia / LDL-Receptor

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Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

Genetics / Adolescent / Spain / Humans / Female / Male / Phenotype / Middle Aged / Adult / Familial Hypercholesterolemia / Sensitivity and Specificity / Predictive value of tests / Clinical Diagnosis / The American / Male / Phenotype / Middle Aged / Adult / Familial Hypercholesterolemia / Sensitivity and Specificity / Predictive value of tests / Clinical Diagnosis / The American

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Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

Genetics / Adolescent / Spain / Humans / Female / Male / Phenotype / Middle Aged / Adult / Familial Hypercholesterolemia / Sensitivity and Specificity / Predictive value of tests / Clinical Diagnosis / The American / Male / Phenotype / Middle Aged / Adult / Familial Hypercholesterolemia / Sensitivity and Specificity / Predictive value of tests / Clinical Diagnosis / The American

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Paraoxonase-1 and linoleic acid oxidation in familial hypercholesterolemia

Humans / Female / Male / High Performance Liquid Chromatography / Lipid Oxidation / Enzyme / High Pressure Liquid Chromatography / Middle Aged / Adult / Fatty Acid / High Density Lipoprotein / Familial Hypercholesterolemia / Oxidation-Reduction / Low Density Lipoprotein (LDL) / Biochemistry and cell biology / Linoleic Acid / Enzyme / High Pressure Liquid Chromatography / Middle Aged / Adult / Fatty Acid / High Density Lipoprotein / Familial Hypercholesterolemia / Oxidation-Reduction / Low Density Lipoprotein (LDL) / Biochemistry and cell biology / Linoleic Acid

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Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza)

Italy / Humans / Female / Polymerase Chain Reaction / Infant / Alternative splicing / Genomic DNA / Alternative Splicing / Familial Hypercholesterolemia / Lipid / Base Sequence / Nucleotides / Biochemistry and cell biology / Alternative splicing / Genomic DNA / Alternative Splicing / Familial Hypercholesterolemia / Lipid / Base Sequence / Nucleotides / Biochemistry and cell biology

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Familial hypercholesterolemia and triglyceride metabolism

Cardiology / Humans / Animals / Risk factors / Lipoprotein(a) / Triglycerides / Coronary heart disease / Risk Factors / Familial Hypercholesterolemia / Low Density Lipoprotein (LDL) / Triglycerides / Coronary heart disease / Risk Factors / Familial Hypercholesterolemia / Low Density Lipoprotein (LDL)

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Paraoxonase-1 and linoleic acid oxidation in familial hypercholesterolemia

Humans / Female / Male / High Performance Liquid Chromatography / Lipid Oxidation / Enzyme / High Pressure Liquid Chromatography / Middle Aged / Adult / Fatty Acid / High Density Lipoprotein / Familial Hypercholesterolemia / Oxidation-Reduction / Low Density Lipoprotein (LDL) / Biochemistry and cell biology / Linoleic Acid / Enzyme / High Pressure Liquid Chromatography / Middle Aged / Adult / Fatty Acid / High Density Lipoprotein / Familial Hypercholesterolemia / Oxidation-Reduction / Low Density Lipoprotein (LDL) / Biochemistry and cell biology / Linoleic Acid

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A Locked Nucleic Acid Antisense Oligonucleotide (LNA) Silences PCSK9 and Enhances LDLR Expression In Vitro and In Vivo

Flow Cytometry / Multidisciplinary / Gene Silencing / Metabolic syndrome / Cell line / Humans / Mice / Animals / Cell Death / Polymerase Chain Reaction / PLoS one / LDL-cholesterol / Cardiovascular Risk Factor / Alanine Aminotransferase / Antisense Oligonucleotide Drugs / Familial Hypercholesterolemia / Cell Survival / Low Density Lipoprotein (LDL) / Intracellular Space / Oligonucleotides / Humans / Mice / Animals / Cell Death / Polymerase Chain Reaction / PLoS one / LDL-cholesterol / Cardiovascular Risk Factor / Alanine Aminotransferase / Antisense Oligonucleotide Drugs / Familial Hypercholesterolemia / Cell Survival / Low Density Lipoprotein (LDL) / Intracellular Space / Oligonucleotides

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A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

Genetics / Cardiovascular disease / Human / DNA / Humans / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates

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Correction of hypoalphalipoproteinemia in LDL receptor-deficient rabbits by lecithin:cholesterol acyltransferase

Kinetics / Gene expression / Lipids / Humans / Mutation / Animals / apolipoprotein A-I / LDL-cholesterol / Enzyme / Lipoproteins / High Density Lipoprotein / Familial Hypercholesterolemia / Lipid / Rabbits / Base Sequence / Biochemistry and cell biology / Production Rate / Animals / apolipoprotein A-I / LDL-cholesterol / Enzyme / Lipoproteins / High Density Lipoprotein / Familial Hypercholesterolemia / Lipid / Rabbits / Base Sequence / Biochemistry and cell biology / Production Rate

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Pharmacological interference with intestinal bile acid transport reduces plasma cholesterol in LDL receptor/apoE deficiency

Physiology / Mice / Cholesterol / Female / Animals / Medical Physiology / LDL-cholesterol / Enzyme / Coronary heart disease / Enzyme activity / Familial Hypercholesterolemia / ADJUVANT THERAPY / Biochemistry and cell biology / Gene Expression Regulation / Medical Physiology / LDL-cholesterol / Enzyme / Coronary heart disease / Enzyme activity / Familial Hypercholesterolemia / ADJUVANT THERAPY / Biochemistry and cell biology / Gene Expression Regulation

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Growth hormone reduces plasma cholesterol in LDL receptor-deficient mice

Physiology / Growth Hormone / Liver / Mice / Cholesterol / Animals / Male / Medical Physiology / Lipoprotein(a) / Triglycerides / Familial Hypercholesterolemia / Enzymatic Activity / Total Cholesterol / Biochemistry and cell biology / Animals / Male / Medical Physiology / Lipoprotein(a) / Triglycerides / Familial Hypercholesterolemia / Enzymatic Activity / Total Cholesterol / Biochemistry and cell biology

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