Results 31 to 40 of about 30,354 (250)

Genotype–phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia

Current Opinion in Lipidology, 2023
Background Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD).
M. D. Reijman, J. Defesche, A. Wiegman
semanticscholar   +1 more source

Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

Data in Brief, 2016
These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age.
Frederick J. Raal, Barbara Sjouke, G. Kees Hovingh, Barton F. Isaac   +3 more
doaj   +1 more source

Liver Transplantation to Provide Low-Density-Lipoprotein Receptors and Lower Plasma Cholesterol in a Child with Homozygous Familial Hypercholesterolemia [PDF]

, 1984
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, David W. Bilheimer, Goldstein, Joseph L. Goldstein, Michael S. Brown, Pittman, Schneider, Schneider, Scott M. Grundy, Thomas E. Starzl   +9 more
core   +1 more source

Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis

Indian Journal of Dermatology, 2015
Homozygous familial hypercholesterolemia is an autosomal dominant disorder of lipid metabolism, characterized by reduced clearance of low-density lipoprotein-cholesterol and a high risk of rapid development of cardiovascular diseases.
Noha Mohammed Dawoud, Ola Ahmed Bakry, Iman Seleit   +2 more
doaj   +1 more source

The Long-Term Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia [PDF]

JACC Adv, 2023
Background Homozygous familial hypercholesterolemia (HoFH) is characterized by early-onset atherosclerotic cardiovascular disease due to the high low-density lipoprotein cholesterol (LDL-C) burden. Patients with null-null low-density lipoprotein receptor
Raal F, Rosenson R, Reeskamp L, Kastelein J, Rubba P, Duell P, Koseki M, Stroes E, Ali S, Banerjee P, Chan K, Khilla N, McGinniss J, Pordy R, Zhang Y, Gaudet D.   +15 more
europepmc   +2 more sources

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]

, 2019
BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek, Chu, Catherine, Gonzaludo, Nina, Grenville, Zoe, Kane, John P, Kwok, Pui-Yan, Lao, Richard, Levy-Sakin, Michal, Ma, Walfred, Mak, Angel CY, Malloy, Mary J, Poon, Annie, Pullinger, Clive R, Vaka, Dedeepya, Wong, Karen HY, Wong, Nicolas   +15 more
core   +1 more source

Design, Rationale, and Preliminary Results of the Canadian Homozygous Familial Hypercholesterolemia Registry: 2008 to 2022 Update

Canadian Journal of Health Technologies, 2023
Homozygous familial hypercholesterolemia (HoFH) is an orphan disease characterized by extreme elevations of low-density lipoprotein cholesterol (LDL-C) in the blood and premature atherosclerotic cardiovascular disease.
L. Brown, I. Ruel, A. Baass, J. Bergeron, L. Brunham, L. Cermakova, P. Couture, D. Gaudet, G. Francis, R. Hegele, I. Iatan, G. Mancini, B. McCrindle, T. Ransom, Mark H. Sherman, R. McPherson, J. Genest   +16 more
semanticscholar   +1 more source

Spectrum of cardiovascular manifestations in homozygous familial hypercholesterolemia

Journal of Marine Medical Society, 2023
Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature ...
Nitin Bajaj, Balbir Singh, Ananthkrishnan Ramamoorthy, Arijit Kumar Ghosh   +3 more
doaj   +1 more source

Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects [PDF]

, 1986
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, Demosky, SJ, Edge, SB, Gregg, RE, Hoeg, JM, Starzl, TE, Triche, T   +6 more
core   +1 more source

Treatment of Homozygous Familial Hypercholesterolemia With ANGPTL3 Inhibitor, Evinacumab

JCEM Case Reports, 2023
Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare, life-threatening, genetic condition characterized by markedly elevated levels of low-density lipoprotein cholesterol (LDL-C).
Isabel Shamsudeen, B. McCrindle, R. Hegele   +2 more
semanticscholar   +1 more source