Associated Papers
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
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.
Oommen D et al.
Frontiers in Genetics, 2020
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
Bourbon M et al.
Current Opinion in Lipidology, 2017
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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