Results 121 to 130 of about 30,354 (250)
Molecular Genetics & Genomic MedicineBackground Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder.
Yongjun Song +4 more
doaj +1 more source
Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results [PDF]
, 2006 Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of functional low density lipoprotein receptors (LDLR).
Bourbon, M. +2 more
core
Treatment of homozygous familial hypercholesterolemia
Clinical Lipidology, 2014 Familial hypercholesterolemia results from gene mutations approximately halving the number of functional LDL receptors in heterozygotes and a greater lack in homozygotes. Reduced receptor-mediated catabolism of LDL causes high plasma LDL cholesterol (LDL-C) and premature coronary artery disease.
France, M +3 more
openaire +2 more sources
Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components
Small Methods, Volume 10, Issue 2, 22 January 2026.The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu +6 more
wiley +1 more source
Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report [PDF]
, 2018 RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis ...
Kuang, Hongyu +5 more
core +1 more source
Beyond lipids: Systemic effects of lipoprotein apheresis
Transfusion, Volume 66, Issue 3, Page 590-598, March 2026.
Menatalla Nadim, Yamac Akgun
wiley +1 more source
Advances in Lipid-Lowering Therapy for Homozygous Familial Hypercholesterolemia
罕见病研究Homozygous familial hypercholesterolemia (HoFH) is an extremely rare and severe hereditary lipid metabolism disorder, characterized by markedly elevated levels of plasma low-density lipoprotein cholesterol (LDL-C), significantly increasing the risk of ...
LI Rui, TIAN Zhuang, ZHANG Shuyang
doaj +1 more source
The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data [PDF]
, 2016 BACKGROUND: The National Institute for Health and Care Excellence 2008 guidelines on the treatment and management of familial hypercholesterolaemia (FH) recommend that children with FH should be considered for statin treatment by the age of 10 years. The
Cooper, J +3 more
core +1 more source
ApoE gene therapy: an overview and update [PDF]
, 2005 Atherosclerosis remains the leading cause of death in industrialized societies. Apolipoprotein E (ApoE) is an attractive candidate to treat hypercholesterolemia and coronary heart disease, as it is a circulating protein with pleiotropic ...
Owen, J.S.
core
Life Course Approach for Managing Familial Hypercholesterolemia
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseTreatment of familial hypercholesterolemia is directed toward the moment of the medical encounter. However, risk for heart disease as a consequence of having familial hypercholesterolemia is related to lifelong exposure to elevated low‐density ...
Samuel S. Gidding +6 more
doaj +1 more source