LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia

S Ibrahim, ML Hartgers, LF Reeskamp, L Zuurbier… - Atherosclerosis, 2024 - Elsevier
Abstract Background and aims Familial Hypercholesterolemia (FH) is a genetic disorder
marked by high LDL cholesterol and an increased premature coronary artery disease (CAD) …

[HTML][HTML] Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia

LK Saidi, ZZM Rani, SA Sulaiman, R Jamal… - … Malaysian Journal of …, 2024 - ncbi.nlm.nih.gov
Background The techniques for detecting single nucleotide polymorphisms (SNP) require
lengthy and complex experimental procedures and expensive instruments that may only be …

[HTML][HTML] Prevalence and distributions of severely elevated low-density lipoprotein cholesterol (LDL-c) according to age, gender and clinic location among patients in …

JD Kanchau, RK Akyea, N Baharudin… - … and Global Health, 2024 - Elsevier
Background Adults with severely elevated low-density lipoprotein cholesterol (LDL-c) may
have familial hypercholesterolaemia (FH) and are at high risk of atherosclerotic …

Structural Dynamics of LDL Receptor Interactions with E498A and R499G Variants of PCSK9

NAA Azhar, SA Jusoh, HM Nawawi, YA Chua - bioRxiv, 2024 - biorxiv.org
The low-density lipoprotein receptor (LDLR) plays an integral role in cellular cholesterol
uptake and lipid metabolism by primarily regulating hepatic clearance of plasma low-density …

[HTML][HTML] Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

A Kamal, JD Kanchau, NS Shahuri… - The American Journal …, 2023 - ncbi.nlm.nih.gov
Objective: Rare disease Background: In Malaysia, the prevalence of genetically confirmed
heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH …