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European heart journal, ISSN 0195-668X, 2015, Volume 36, Issue 43, pp. 2996 - 3003
Journal Article
European heart journal, ISSN 1522-9645, 07/2014, Volume 35, Issue 32, pp. 2146 - 2157
Journal Article
Journal Article
Current pharmaceutical design, ISSN 1381-6128, 2018, Volume 24, Issue 31, pp. 3599 - 3604
Background: Familial Hypercholesterolaemia (FH) is an autosomal-dominant genetic disease and represents the most common genetic disorder: heterozygous 1/250... 
pathogenesis | Familial hypercholesterolaemia | pathophysiology | PCSK9 | apolipoprotein B | autosomal recessive hypercholesterolaemia | LDL receptor | Life Sciences & Biomedicine | Pharmacology & Pharmacy | Science & Technology
Journal Article
Journal Article
Paediatrics and international child health, ISSN 2046-9047, 10/2016, Volume 36, Issue 4, pp. 243 - 247
Homozygous familial hypercholesterolaemia (HoFH) is an inherited disease causing an approximately fourfold increase in blood low-density lipoprotein... 
HeFH, heterozygous familial hypercholesterolaemia, is caused by one mutant allele of genes affecting LDLR activity | ADH, autosomal dominant hypercholesterolaemia, refers to hypercholesterolaemia owing to a single mutation of an allele of a gene affecting LDLR activity | PCSK9, a protein called proprotein convertase subtilisin/kexin type 9, increases the rate of degradation of LDLR | Lomitapide | APOB, apolipoprotein B, is the main protein component of LDL and is the ligand for LDL receptors in the liver | FH, familial hypercholesterolaemia, is an inherited condition causing reduced LDLR activity with consequent hypercholesterolaemia | PCSK9 | LDLRAP1, a protein called LDLR adaptor protein 1, facilitates LDLR function | Lipoprotein apheresis | Microsomal triglyceride transfer protein is an enzyme involved in the hepatic assembly of triglyceride, cholesterol and APOB into triglyceride-rich particles which are secreted by the liver. These particles are metabolised to LDL | Evolucomab | LDL, low-density lipoprotein, is a complex of cholesterol attached to a lipoprotein particle which is removed from blood mainly by the liver | Homozygous familial hypercholesterolaemia | HoFH, homozygous familial hypercholesterolaemia is caused by two mutant alleles of genes affecting LDLR activity | ARH, autosomal recessive hypercholesterolaemia, refers to hypercholesterolaemia owing to a mutation of both alleles of a single gene affecting LDLR activity | LDLR, LDL receptors, mediate LDL uptake by the liver | LDLC, LDL cholesterol, refers to the cholesterol component of LDL | Liver transplantation | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Hyperlipoproteinemia Type II - complications | Atherosclerosis - etiology | Hyperlipoproteinemia Type II - therapy | Anticholesteremic Agents - therapeutic use | Atherosclerosis - therapy | Humans | Hyperlipoproteinemia Type II - diagnosis | Organ Transplantation | Index Medicus
Journal Article
Journal Article