Associated Papers
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
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-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
PCSK9 Inhibitors in a Statin-Intolerant Transgender Man With Heterozygous Familial Hypercholesterolemia: A Case Report.
Pirazzi C et al.
Journal of the Endocrine Society, 2019
Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis.
Donato LJ et al.
Journal of Clinical Apheresis, 2014
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
van der Graaf A et al.
Circulation, 2011
Individuals with familial hypercholesterolemia and cardiovascular events have higher circulating Lp(a) levels.
Pavanello C et al.
Journal of Clinical Lipidology, 0
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