Results 131 to 140 of about 30,354 (250)

Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

Медицинский совет, 2018
Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life ...
V. К. Zafiraki, Е. D. Kosmacheva, I. N. Zakharova, V. A. Korneva, A. V. Susekov   +4 more
doaj   +1 more source

Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients

Human Genomics
Background Familial Hypercholesterolemia (FH) is a major risk factor for premature Coronary Artery Disease (CAD). Genetic testing is the gold standard for FH diagnosis.
Rania A. Zahwo, Ziad N. Rezk, Tamer M. Elwasify, Amr M. Zaki, Hoda M. El Assi, Eman Ramadan, Abdallah Y. Habib, Wael A. Hassan, Ahmed Abdel-Raouf, Ameera Ragheb, Amin F. Shaker, Khaled E. Amer, Heba Sh. Kassem   +12 more
doaj   +1 more source

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. [PDF]

, 2011
The main causes of familial hypercholesterolemia (FH) are mutations in LDL receptor (LDLR) gene. Functional studies are necessary to demonstrate the LDLR function impairment caused by mutations and would be useful as a diagnostic tool if they allow ...
D'Agostino MN, Del Vecchio L, Di Noto R, Di Taranto MD, Fortunato G., Gentile M, Iannuzzi A, Marotta G, Mirabelli P, Raia M, Romano M, Rubba P   +11 more
core   +1 more source

Clinical outcome of patients with familial hypercholesterolemia and coronary artery disease undergoing partial ileal bypass surgery

Arquivos Brasileiros de Cardiologia, 2000
Familial hypercholesterolemia is characterized by high serum levels of total cholesterol and LDL-cholesterol. It may be homozygous or heterozygous. In homozygous patients, LDL-cholesterol levels range from 500 to 1000mg/dL and coronary artery disease is ...
Jaqueline Scholz Issa, Artur Garrido Jr, Sérgio Diogo Giannini, Neusa Forti, Jayme Diament, Henrique Walter Pinotti   +5 more
doaj   +1 more source

Treating homozygous familial hypercholesterolemia in a real-world setting: Experiences with lomitapide [PDF]

, 2015
Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disease characterised by markedly elevated plasma levels of low-density lipoprotein-cholesterol (LDL-C).
Alonso, R., AVERNA, Maurizio, Roeters Van Lennep, J.   +2 more
core   +1 more source

Homozygous familial hypercholesterolemia with stenosis of the left anterior descending coronary artery successfully treated with weekly low‐density lipoprotein apheresis for 16 years without percutaneous coronary intervention

Clinical Case Reports, 2019
We successfully treated a patient with homozygous familial hypercholesterolemia (HoFH) with stable coronary arterial disease using optimal medical therapy and low‐density lipoprotein (LDL) apheresis for 16 years without percutaneous coronary intervention
Takanori Yasu, Masahiro Shimoyama, Hiroshi Wada, Tomohiro Iwakura, Shigeru Toyoda, Atsuhiko Kawabe, Takushi Sugiyama   +6 more
doaj   +1 more source

Molecular characterization of familial hypercholesterolemia in Iranian patients [PDF]

, 2011
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B 100 (APOB) genes.
Ashrafi, Koorosh., Banitalebi, Mehdi., Farrokhi, Effat., Ghatreh Samani, Keihan., Hashemzadeh Chaleshtori, Morteza., Mobini, Gholam Reza., Modarresi, M, Parvin, Neda., Roghani Dehkordi, F., Shahrani, Mehrdad., Shayesteh, Farzad., Shirani, M.   +11 more
core  

Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part [PDF]

, 2018
Fifty per cent of first-degree relatives of index cases with familial hypercholesterolemia (FH) inherit the disorder. Despite cascade screening being the most cost-effective method for detecting new cases, only a minority of individuals with FH are ...
Brett, Tom, Gidding, Samuel, Qureshi, Nadeem, Watts, Gerald F   +3 more
core   +3 more sources

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes : Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration [PDF]

, 2016
Background: The potential for global collaborations to better inform public health policy regarding major non-hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using ...
Abifadel, Marianne, Aguilar-Salinas, Carlos A., Akram, Asif, Al-Rasadi, Khalid, Alnouri, Fahad, Alonso, Rodrigo, Banach, Maciej, Bogsrud, Martin P., Bourbon, Mafalda, Bruckert, Eric, Car, Josip, Catapano, Alberico L., Ceska, Richard, Cole, Della, Corral, Pablo, David Marais, A., Descamps, Olivier, Dieplinger, Hans, Do, Can T., Durst, Ronen, EAS Familial Hypercholesterolaemia Studies Collaboration, European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration, Ezhov, Marat V., Fras, Zlatko, Freiberger, Tomas, Gaita, Dan, Gaspar, Isabel M., Genest, Jaques, Harada-Shiba, Mariko, Jiang, Lixin, Kastelein, John J.P., Kayikcioglu, Meral, Kees Hovingh, G., Kondapally Seshasai, Sreenivasa Rao, Lam, Carolyn S.P., Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lin, Jie, Lin, Nan, Maher, Vincent, Majano, Nelson, Mata, Pedro, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, März, Winfried, Naceur Slimane, M., Nawawi, Hapizah, Nilsson, Lennart, Nordestgaard, Børge G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Raal, Frederick J., Ray, Kausik K., Reiner, Željko, Sahebkar, Amirhossein, Santos, Lourdes E., Santos, Raul D., Schunkert, Heribert, Shehab, Abdullah, Soran, Handrean, Stoll, Mario, Su, Ta-Chen, Susekov, Andrey, Tilney, Myra Kay, Tomlinson, Brian, Tselepis, Alexandros D., Vallejo-Vaz, Antonio J., Vohnout, Branislav, Watts, Gerald F., Widén, Elisabeth, Yamashita, Shizuya   +73 more
core   +4 more sources

Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolemia [PDF]

, 2010
High-dose potent statin therapy in combination with ezetimibe is now standard practice for the treatment of adult patients with heterozygous familial hypercholesterolemia (heFH), as the result of numerous studies in patients with primary ...
Hamilton-Craig, Ian, Kostner, Karam, Colquhoun, David, Woodhouse, Stan   +3 more
core   +2 more sources