Results 1 to 10 of about 20,467 (242)

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 Hypercholesterolemia: A Genetic and Metabolic Study.

Annals of Internal Medicine, 1965
Excerpt A large family having familial hypercholesterolemia with a complete pedigree dating from 1732 was studied to define the inheritance, clinical manifestations, and biochemical features.
WILLIAM R. HARLAN, JOHN B. GRAHAM, E. HARVEY ESTES   +2 more
openaire   +1 more source

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis

Indian Heart Journal, 2018
Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death.
Rajpal Prajapati, Vikas Agrawal
doaj   +1 more source

Familial hypercholesterolemia: current status of the problem, treatment, and prevention

Кардиоваскулярная терапия и профилактика, 2020
Familial hypercholesterolemia is the most common hereditary disease characterized by an increase in low density lipoprotein cholesterol levels and the premature development of atherosclerosis-related cardiovascular diseases.
S. A. Bliznyuk, M. G. Bubnova, M. V. Ezhov   +2 more
doaj   +1 more source

Prevalence of Severe Hypercholesterolemia and Familial Hypercholesterolemia Phenotype in Patients with Acute Coronary Syndrome

Medicina
Background and Objectives: Atherosclerotic cardiovascular disease is one of the most common causes of death and disability around the world. Hypercholesterolemia is an established and widely prevalent risk factor; however, the prevalence of severe ...
Urtė Aliošaitienė, Aleksandras Laucevičius, Urtė Smailytė, Egidija Rinkūnienė, Roma Puronaitė, Jūratė Barysienė, Žaneta Petrulionienė   +6 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene

Stem Cell Research
Familial hypercholesterolemia is an autosomal dominant genetic disorder that often leads to abnormally high cholesterol levels in the body, which is closely related to early-onset coronary heart disease.
Yongjuan Ruan, Xiaowei Li, Jianzeng Dong, Youjian Zhang   +3 more
doaj   +1 more source

Similar content of phospholipids and gangliosides in normal and homozygous familial hypercholesterolemia fibroblasts.

Journal of Lipid Research, 1978
The cellular content of total and individual phospholipids and gangliosides was measured in fibroblasts cultured from four normal subjects, three patients with lysosomal lipid storage diseases, and two subjects with homozygous familial ...
P H Fishman, R M Bradley, M S Brown, J R Faust, J L Goldstein   +4 more
doaj   +1 more source

Familial Hypercholesterolemia [PDF]

Journal of Atherosclerosis and Thrombosis, 2014
Tamio, Teramoto, Jun, Sasaki, Shun, Ishibashi, Sadatoshi, Birou, Hiroyuki, Daida, Seitaro, Dohi, Genshi, Egusa, Takafumi, Hiro, Kazuhiko, Hirobe, Mami, Iida, Shinji, Kihara, Makoto, Kinoshita, Chizuko, Maruyama, Takao, Ohta, Tomonori, Okamura, Shizuya, Yamashita, Masayuki, Yokode, Koutaro, Yokote, Mariko, Harada-Shiba, Hidenori, Arai, Hideaki, Bujo, Atsushi, Nohara, Takao, Ohta, Shinichi, Oikawa, Tomoo, Okada, Akihiko, Wakatsuki   +25 more
openaire   +4 more sources

Evidence for a third genetic locus causing familial hypercholesterolemia: a non-LDLR, non-APOB kindred1

Journal of Lipid Research, 1999
Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or at the apolipoprotein B (APOB) locus causing the disorder familial ...
L. Haddad, I.N.M. Day, S. Hunt, R.R. Williams, S.E. Humphries, P.N. Hopkins   +5 more
doaj   +1 more source

Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Journal of geriatric cardiology : JGC, 2018
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism which can lead to premature coronary heart disease (pCHD). There are about 3.8 million potential FH patients in China, whereas the clinical and genetic data of FH are limited.Dutch Lipid Clinic Network (DLCN) criteria was used to diagnose FH in outpatients ...
Wang, Xu, Jiang, Long, Sun, Li-Yuan, Wu, Yue, Wen, Wen-Hui, Wang, Xi-Fu, Liu, Wei, Zhou, Yu-Jie, Wang, Lu-Ya   +8 more
openaire   +2 more sources