International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia
This contemporary, international, evidence-informed guidance aims to achieve the greatest
good for the greatest number of people with familial hypercholesterolaemia (FH) across …
good for the greatest number of people with familial hypercholesterolaemia (FH) across …
Genetic testing in familial hypercholesterolemia: is it for everyone?
AM Medeiros, M Bourbon - Current Atherosclerosis Reports, 2023 - Springer
Abstract Purpose of Review Lipid measurements and genetic testing are the main diagnostic
tools for FH screening that are available in many countries. A lipid profile is widely …
tools for FH screening that are available in many countries. A lipid profile is widely …
LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients
TKA Barbosa, RDC Hirata, GM Ferreira, JB Borges… - Gene, 2023 - Elsevier
Familial hypercholesterolemia (FH) is caused by deleterious mutations in the LDLR that
increase markedly low-density lipoprotein (LDL) cholesterol and cause premature …
increase markedly low-density lipoprotein (LDL) cholesterol and cause premature …
Low-cost high-throughput genotyping for diagnosing familial hypercholesterolemia
S Ibrahim, J Van Rooij, AJMH Verkerk… - Circulation: Genomic …, 2023 - Am Heart Assoc
BACKGROUND: Familial hypercholesterolemia (FH) is a common but underdiagnosed
genetic disorder characterized by high low-density lipoprotein cholesterol levels and …
genetic disorder characterized by high low-density lipoprotein cholesterol levels and …
Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase
Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-
cholesterol. This condition has long-term clinical implications, such as cardiovascular …
cholesterol. This condition has long-term clinical implications, such as cardiovascular …
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) …
marked by high LDL cholesterol and an increased premature coronary artery disease (CAD) …
Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and …
Familial hypercholesterolemia (FH) is a globally underdiagnosed genetic condition
associated with premature cardiovascular death. The genetic etiology data on Arab FH …
associated with premature cardiovascular death. The genetic etiology data on Arab FH …
Genotype–phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia
MD Reijman, JC Defesche… - Current Opinion in …, 2023 - journals.lww.com
Background Familial hypercholesterolemia (FH) is a genetic disorder characterized by
elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular …
elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular …
[PDF][PDF] Kaedah Diagnostik Semasa dan Penggunaan Ujian Titik Penjagaan Pantas (POC) Bagi Mendiagnos Hiperkolesterolemia Famili (FH)
K Asli - Jurnal Sains Kesihatan Malaysia, 2023 - journalarticle.ukm.my
Hiperkolesterolemia Famili (FH) ialah penyakit genetik yang diwarisi secara autosomal
dominan dan dicirikan melalui peningkatan kepekatan plasma kolesterol lipoprotein …
dominan dan dicirikan melalui peningkatan kepekatan plasma kolesterol lipoprotein …
Validation of Novel Mutation in Familial Hypercholesterolemia in Saudi Arabia
Introduction: Familial hypercholesterolemia (FH) is a genetic condition that occurs globally
associated with premature cardiovascular deaths. The genetic data on Arab FH patients is …
associated with premature cardiovascular deaths. The genetic data on Arab FH patients is …