Associated Papers
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf
Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.
Bruckert E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2022
36325897 (PubMed )
Supplement: atv-42-1447-s001.pdf
Variation in Coronary Atherosclerosis Severity Related to a Distinct LDL (Low-Density Lipoprotein) Profile: Findings From a Familial Hypercholesterolemia Pig Model.
Hoogendoorn A et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
31554418 (PubMed )
Supplement: atv-39-2338-s001.pdf
Coronary computed tomography angiography and echocardiography in children with homozygous familial hypercholesterolemia.
Luirink IK et al.
Atherosclerosis, 2019
The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.
Ten Kate GJ et al.
Atherosclerosis, 2013
Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.
Ajmal M et al.
Molecular Biology Reports, 2010
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
Miyake Y et al.
Atherosclerosis, 2009
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0
The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
Luirink IK et al.
Journal of Clinical Lipidology, 0
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