Results 201 to 210 of about 30,354 (250)

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia

Circulation Genomic and Precision Medicine, 2023
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma low-density lipoprotein cholesterol and accelerated atherosclerosis.
A. Chaudhry, M. Trinder, Kristin Vesely, L. Cermakova, L. Jackson, Jian Wang, R. Hegele, L. Brunham   +7 more
semanticscholar   +1 more source

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.

Journal of Clinical Lipidology, 2023
Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature ...
Dr Abdullah Al-Ashwal, Dr Mohammed Al Dubayee, Dr Afaf Alsagheir, Dr Mutaz Al-Sabah, Dr Ahmed Al-Sarraf, Dr Zuhier Awan, Dr Tawfeg Ben-Omran, Dr Saif Al-Yaarubi, Dr Angham Almutair, Dr Abdelhadi Habeb, Dr Faouzi Maatouk, Manal Alshareef, Dr Naji Kholaif, PhD Blom   +13 more
semanticscholar   +1 more source

Homozygous Familial Hypercholesterolemia

New England Journal of Medicine, 1999
Figure 1. A 39-year-old man with homozygous familial hypercholesterolemia because of a G→C mutation at the acceptor-splice site of intron 7 of the low-density lipoprotein (LDL) receptor had undergone coronary-artery bypass grafting at the age of 29 years and carotid endarterectomy at the ages of 38 and 39 years.
Jacques Genest, Marc-André Lavoie
openaire   +1 more source

Long-term experience with lomitapide treatment in patients with homozygous familial hypercholesterolemia: Over 10 years of efficacy and safety data.

Journal of Clinical Lipidology
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by loss of low-density lipoprotein receptor (LDLR) function, an extreme elevation of circulating low-density lipoprotein cholesterol (LDL-C) from birth and ...
Marcello Arca, L. D’Erasmo, Marina A Cuchel, Dirk J Blom, J. Cegla, P. Duell, Raul D. Santos, Sallyann O’Brien   +7 more
semanticscholar   +1 more source

Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study.

Journal of Clinical Lipidology, 2022
BACKGROUND There is a lack of large-scale data on the clinical and genotype characteristics of homozygous familial hypercholesterolemia (HoFH) patients in Asia.
Long Jiang, R. Stoekenbroek, Feng Zhang, Qian Wang, Wei Yu, Hui Yuan, G. Cai, Yunqin Chen, Guoping Li, yan-lin Yang, Yanan Zhang, X. Cheng, Handong Zhu, Hongwen Zhou, Ping Ye, Shen Yan, Xu Wang, Wenfeng Wu, Rongjuan Li, Jinjie Xie, J. Jiao, Shi Cheng, W. Niu, Juan Chen, Shiwei Yang, Yujie Zhou, J. Kastelein, Ya Yang, Luya Wang   +28 more
semanticscholar   +1 more source

Homozygous familial hypercholesterolemia in Japan

The American Journal of Medicine, 1978
Abstract Fifty-one homozygous patients with familial hypercholesterolemia, including our six patients, are described in this paper. Twenty were men and 31 were women. Their ages ranged between two and 52 years, with a mean of 16.8 years. Six patients exceeded the third decade. The mean age at death in seven patients was 17 years. The serum cholesterol
H, Mabuchi, R, Tatami, T, Haba, K, Ueda, R, Ueda, T, Kametani, S, Itoh, J, Koizumi, M, Oota, S, Miyamoto, R, Takeda, H, Takeshita   +11 more
openaire   +2 more sources

Statins in homozygous familial hypercholesterolemia

Current Atherosclerosis Reports, 2002
Homozygous familial hypercholesterolemia is a rare disorder resulting in severe premature atherosclerosis. Drug therapy was previously viewed as inadequate for control of the dyslipidemia, so portacaval shunting, plasmapheresis, and liver transplantation were undertaken to treat this condition.
A D, Marais, D J, Blom, J C, Firth
openaire   +2 more sources

Lessons learned from the evinacumab trials in the treatment of homozygous familial hypercholesterolemia.

Future Cardiology, 2022
Homozygous familial hypercholesterolemia (HoFH) is a life-threatening disease characterized by extremely elevated LDL cholesterol (LDL-C) levels which result in premature atherosclerotic cardiovascular disease.
E. Khoury, Laurent Croteau, A. Lauzière, D. Gaudet   +3 more
semanticscholar   +1 more source

Evinacumab for the treatment of homozygous familial hypercholesterolemia

Expert Review of Clinical Pharmacology, 2022
Introduction Hypercholesterolemia is mainly caused by abnormal lipoprotein metabolism and can increase the risk of cardiovascular disease. Angiopoietin-like protein 3 (ANGPTL3) can increase low-density lipoprotein cholesterol (LDL-C) and other lipids by ...
Yanli Gao, Baoqi Zhang, Junyi Yang
semanticscholar   +1 more source