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_2_-_variants__HoFH_
A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.
Nikasa P et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report.
Thedrez A et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2016
27079874 (PubMed )
Supplement: atvb_atvb-2016-307493d_supp1.pdf
Molecular mechanisms of autosomal recessive hypercholesterolemia.
Wilund KR et al.
Human Molecular Genetics, 2002
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