Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf
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_
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.
D'Erasmo L et al.
Orphanet Journal of Rare Diseases, 2021
34496902 (PubMed )
Supplement: 13023_2021_1999_MOESM1_ESM.docx
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
Benedek P et al.
Journal of Internal Medicine, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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
Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child.
Lock JH et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2018
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Balder JW et al.
Circulation, 2018
29459468 (PubMed )
Supplement: circ_circulationaha-2017-032479_supp1.pdf
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
van der Graaf A et al.
Circulation, 2011
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Huijgen R et al.
Human Mutation, 2010
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG et al.
Journal of Clinical Lipidology, 0
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