Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.
Arteriosclerosis, Thrombosis, And Vascular Biology
Bruckert, Eric E; Caprio, Sonia S; Wiegman, Albert A; Charng, Min-Ji MJ; Zárate-Morales, Cézar A CA; Baccara-Dinet, Marie T MT; Manvelian, Garen G; Ourliac, Anne A; Scemama, Michel M; Daniels, Stephen R SR
Publication Date: 2022-12
Variant appearance in text: LDLR: 2099A>G; Asp700Gly
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Journal Of Clinical Medicine
Sabatel-Pérez, Fernando F; Sánchez-Prieto, Joaquín J; Becerra-Muñoz, Víctor Manuel VM; Alonso-Briales, Juan Horacio JH; Mata, Pedro P; Rodríguez-Padial, Luis L
Publication Date: 2021-02-13
Variant appearance in text: LDLR: 2099A>G; Asp700Gly
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN