Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the …
M Cuchel, E Bruckert, HN Ginsberg… - European heart …, 2014 - academic.oup.com
Abstract Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening
condition characterized by markedly elevated circulating levels of low-density lipoprotein …
condition characterized by markedly elevated circulating levels of low-density lipoprotein …
Genetic and molecular architecture of familial hypercholesterolemia
M Abifadel, C Boileau - Journal of internal medicine, 2023 - Wiley Online Library
Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its
important risk of premature atherosclerosis and cardiovascular disease, familial …
important risk of premature atherosclerosis and cardiovascular disease, familial …
Atualização da diretriz brasileira de dislipidemias e prevenção da aterosclerose–2017
AA Faludi, MCO Izar, JFK Saraiva… - Arquivos brasileiros de …, 2017 - SciELO Brasil
Material de distribuição exclusiva à classe médica. Os Arquivos Brasileiros de Cardiologia
não se responsabilizam pelo acesso indevido a seu conteúdo e que contrarie a …
não se responsabilizam pelo acesso indevido a seu conteúdo e que contrarie a …
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment
Homozygous familial hypercholesterolemia (HoFH) is an autosomal co-dominant disease
resulting from mutations in both copies of the low-density lipoprotein receptor (LDLR) gene …
resulting from mutations in both copies of the low-density lipoprotein receptor (LDLR) gene …
Mechanisms of disease: genetic causes of familial hypercholesterolemia
AK Soutar, RP Naoumova - Nature clinical practice Cardiovascular …, 2007 - nature.com
Familial hypercholesterolemia (FH) is characterized by raised serum LDL cholesterol levels,
which result in excess deposition of cholesterol in tissues, leading to accelerated …
which result in excess deposition of cholesterol in tissues, leading to accelerated …
The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications
S Benjannet, D Rhainds, J Hamelin, N Nassoury… - Journal of Biological …, 2006 - ASBMB
PCSK9 is the ninth member of the proprotein convertase (PC) family. Some of its natural
mutations have been genetically associated with the development of a dominant form of …
mutations have been genetically associated with the development of a dominant form of …
Update on the molecular biology of dyslipidemias
I Ramasamy - Clinica chimica acta, 2016 - Elsevier
Dyslipidemia is a commonly encountered clinical condition and is an important determinant
of cardiovascular disease. Although secondary factors play a role in clinical expression …
of cardiovascular disease. Although secondary factors play a role in clinical expression …
Familial hypercholesterolemia: A review
MJ Varghese - Annals of pediatric cardiology, 2014 - journals.lww.com
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting
in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk …
in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk …
Genetics of familial hypercholesterolemia
A Brautbar, E Leary, K Rasmussen, DP Wilson… - Current atherosclerosis …, 2015 - Springer
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-
density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a …
density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a …
Familial hypercholesterolemia: the lipids or the genes?
Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular
disease and is often undiagnosed in young people. Although the disease is diagnosed …
disease and is often undiagnosed in young people. Although the disease is diagnosed …