Results 11 to 20 of about 53,176 (324)

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

New England Journal of Medicine, 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   +3 more sources

Familial Hypercholesterolemia [PDF]

Cardiology Clinics, 2015
Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen, and low-density lipoprotein (LDL) apheresis are treatments that can lower LDL cholesterol ...
Victoria Enchia, Bouhairie, Anne Carol, Goldberg   +1 more
openaire   +3 more sources

Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation

JMIR Human Factors, 2022
BackgroundFamilial hypercholesterolemia, a prevalent genetic disorder, remains significantly underdiagnosed in the United States.
Hana Bangash, Ahmed Makkawy, Justin H Gundelach, Alexandra A Miller, Kimberly A Jacobson, Iftikhar J Kullo   +5 more
doaj   +1 more source

Effectiveness and safety of PCSK9 inhibitor therapy in patients with familial hypercholesterolemia within a therapeutic program in Poland: Preliminary multicenter data

Cardiology Journal, 2022
BACKGROUND: In Poland, treatment with proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors has become available free of charge in a therapeutic program. Assessed herein, is the efficacy and safety of alirocumab and evolocumab in patients with
Krzysztof Chlebus, Barbara Cybulska, Piotr Dobrowolski, Marzena Romanowska-Kocejko, Marta Żarczyńska-Buchowiecka, Natasza Gilis-Malinowska, Aneta Stróżyk, Justyna Borowiec-Wolna, Marcin Pajkowski, Beata Bobrowska, Renata Rajtar-Salwa, Aleksandra Kwapiszewska, Małgorzata Waluś-Miarka, Magdalena Chmara, Rafał Gałąska, Maciej Małecki, Tomasz Zdrojewski, Marcin Gruchała   +17 more
doaj   +1 more source

Metformin Ameliorates Cognitive Deficits and Neuroinflammation in a Mouse Model of Familial Hypercholesterolemia [PDF]

Neurochem Res
Natália Baltazar do Nascimento, Hémelin Resende Farias, Tainá Schons, Alex Paulo Z. Padilha, Mariana Viana Costa, Ariadni Mesquita Peres, Lucas dos Santos da Silva, Ricardo Maia Dantas, Jéssica Marques Obelar Ramos, Matheus Scarpatto Rodrigues, Fernanda Telles, Fátima Theresinha Costa Rodrigues Guma, José Cláudio Fonseca Moreira, Rachel Krolow, Andreza Fabro de, Jade de Oliveira   +15 more
openalex   +2 more sources

Young women with familial hypercholesterolemia have higher LDL-cholesterol burden than men: Novel data using repeated measurements during 12-years follow-up

Atherosclerosis Plus, 2023
Background and aims: The concentration and the duration of exposure to low-density lipoprotein cholesterol (LDL-C) (LDL-C burden) is an important determinant of risk for cardiovascular disease and thresholds has recently been estimated.
Anja K. Johansen, Martin P. Bogsrud, Jacob J. Christensen, Amanda Rundblad, Ingunn Narverud, Stine Ulven, Gisle Langslet, Kjetil Retterstøl, Kirsten B. Holven   +8 more
doaj   +1 more source

A comprehensive metabolic profiling of the metabolically healthy obesity phenotype

Lipids in Health and Disease, 2020
Background The ever-increasing prevalence of obesity constitutes a major health problem worldwide. A subgroup of obese individuals has been described as “metabolically healthy obese” (MHO).
Vibeke H. Telle-Hansen, Jacob J. Christensen, Gulla Aase Formo, Kirsten B. Holven, Stine M. Ulven   +4 more
doaj   +1 more source

Homozygous Familial Hypercholesterolemia

Journal of Atherosclerosis and Thrombosis, 2021
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated pathway and most of them exhibit autosomal dominant inheritance. Homozygotes of FH (HoFH) may have plasma LDL-C levels, which are at least twice as high as those of heterozygous FH ...
Nohara, Atsushi, Tada, Hayato, Ogura, Masatsune, Okazaki, Sachiko, Ono, Koh, Shimano, Hitoshi, Daida, Hiroyuki, Dobashi, Kazushige, Hayashi, Toshio, Hori, Mika, Matsuki, Kota, Minamino, Tetsuo, Yokoyama, Shinji, Harada-Shiba, Mariko   +13 more
openaire   +3 more sources

The effects of cholesterol accumulation on Achilles tendon biomechanics: A cross-sectional study.

PLoS ONE, 2021
Familial hypercholesterolemia, a common genetic metabolic disorder characterized by high cholesterol levels, is involved in the development of atherosclerosis and other preventable diseases.
Kipling Squier, Alexander Scott, Michael A Hunt, Liam R Brunham, David R Wilson, Hazel Screen, Charlie M Waugh   +6 more
doaj   +1 more source

Isfahan familial hypercholesterolemia cohort (IFHC) study: Methods, insights and early results. [PDF]

ARYA Atheroscler
Sonia Zarfeshani, Golnaz Vaseghi, Noushin Mohammadifard, Minoo Dianatkhah, Jamshid Najafian, Masood Shekarchizadeh, Shabnam Hajian, Ali Pourmoghaddas, Anita Vaseghi, Elham Khosravi, Nizal Sarrafzadegan, Kian Heshmat Ghahderijani   +11 more
openalex   +3 more sources