Results 91 to 100 of about 30,354 (250)

Key Points Interpretation of Chinese Expert Consensus on Early Screening and Management of Homozygous Familial Hypercholesterolemia (2024) [PDF]

Zhongguo quanke yixue
Familial hypercholesterolemia (FH) is a severe inherited metabolic disorder. Early diagnosis and early treatment can greatly improve the prognosis of patients, but the recognition and management of homozygous familial hypercholesterolemia (HoFH) remain ...
WU Hui, WANG Luya, LI Jialu, ZHANG Jun
doaj   +1 more source

Evaluation of the role of STAP1 in Familial Hypercholesterolemia [PDF]

, 2019
Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease.
Bobbert, Thomas, Danyel, Magdalena, Demuth, Ilja, Fuchsberger, Christian, Grenkowitz, Thomas, Hicks, Andrew A., Kassner, Ursula, Ott, Claus-Eric, Salewsky, Bastian, Steinhagen-Thiessen, Elisabeth   +9 more
core   +1 more source

Evolocumab in patients with homozygous familial hypercholesterolemia in India.

Journal of Clinical Lipidology, 2021
BACKGROUND Evolocumab is a fully human monoclonal antibody inhibitor of proprotein convertase subtilisin/kexin type 9 approved in India for treatment of homozygous familial hypercholesterolemia (HoFH) in patients aged ≥12 years.
S. Bansal, A. Ruzza, J. Sawhney, G. Kulkarni, S. Iyengar, V. Mehta, A. Hamer, You Wu, F. Raal   +8 more
semanticscholar   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Portacaval shunt for glycogen storage disease and hyperlipidaemia. [PDF]

, 1977
Complete portacaval shunt was used to treat 10 patients with glycogen storage disease. A favourable effect was noted on body growth and a number of metabolic abnormalities.
Benichou, J, Porter, KA, Putnam, CW, Starzl, TE   +3 more
core  

Familial hypercholesterolaemia in Portugal [PDF]

, 2008
Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD ...
Alves, A.C., Bourbon, M., Investigators of Portuguese FH Study, Medeiros, A.M., Silva, S., Soutar, A.K.   +5 more
core   +1 more source

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension

Acta Physiologica, Volume 242, Issue 3, March 2026.
ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Ankita B. Jaykumar, Sumit R. Monu, Jiang Xu, Mariela Mendez, Xiao‐Ping Yang, Nour‐Eddine Rhaleb, Pablo A. Ortiz   +6 more
wiley   +1 more source

Clinical experience of lomitapide therapy in patients with homozygous familial hypercholesterolaemia [PDF]

, 2014
The microsomal triglyceride transfer protein (MTP) inhibitor lomitapide is a licenced adjunct to a low-fat diet and other lipid-lowering medication, with or without low-density lipoprotein apheresis, for the treatment of adults with homozygous familial ...
AVERNA, Maurizio, Blom, DJ, Cuchel, M
core   +1 more source

Quantitative Histological Insights Into Sudden Arrhythmic Death Syndrome: Findings From a Forensic Autopsy Cohort

APMIS, Volume 134, Issue 3, March 2026.
ABSTRACT Sudden arrhythmic death syndrome (SADS) is a major cause of sudden cardiac death in young individuals, characterized by structurally normal hearts and negative toxicology. Although guidelines recommend family screening, phenotyping remains challenging.
Pernille Heimdal Holm, Thomas Hartvig Lindkær Jensen, Joseph Westaby, Mary Sheppard, Stine Bøttcher Jacobsen, Mikkel Eriksen Dupont, Jeppe Dyrberg Andersen, Bo Gregers Winkel, Jacob Tfelt‐Hansen, Jytte Banner, Kristine Boisen Olsen   +10 more
wiley   +1 more source

Homozygous Familial Hypercholesterolemia with Generalized Arterial Disease [PDF]

Medical Principles and Practice, 2006
<i>Objective:</i> This report describes the clinical features and management of an 11-year-old boy with end-stage homozygous familial hypercholesterolemia (hoFH) and generalized arterial disease. <i>Clinical Presentation and Intervention:</i> The patient presented with recurrent anginal episodes.
J P, Selvan, B, Uthaman, L, Abushaban, R, Jebaraj   +3 more
openaire   +2 more sources