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The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M, Rabès JP, Varret M. Azar Y, et al. Among authors: blom d. Atherosclerosis. 2024 Dec;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Epub 2024 Sep 13. Atherosclerosis. 2024. PMID: 39500114 Free article.
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study.
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC). European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (EAS FHSC). Lancet Diabetes Endocrinol. 2024 Nov;12(11):811-823. doi: 10.1016/S2213-8587(24)00221-3. Epub 2024 Oct 4. Lancet Diabetes Endocrinol. 2024. PMID: 39374602 Free article.
Cardiovascular outcomes in patients with homozygous familial hypercholesterolaemia on lipoprotein apheresis initiated during childhood: long-term follow-up of an international cohort from two registries.
Reijman MD, Tromp TR, Hutten BA, Hovingh GK, Blom DJ, Catapano AL, Cuchel M, Dann EJ, Gallo A, Hudgins LC, Raal FJ, Ray KK, Sadiq F, Soran H, Groothoff JW, Wiegman A, Kusters DM; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators (HICC); Children with Homozygous Hypercholesterolemia on Lipoprotein Apheresis: an International Registry (CHAIN) consortia. Reijman MD, et al. Among authors: blom dj. Lancet Child Adolesc Health. 2024 Jul;8(7):491-499. doi: 10.1016/S2352-4642(24)00073-7. Epub 2024 May 14. Lancet Child Adolesc Health. 2024. PMID: 38759658
Management of hyperlipidaemia.
Marais AD, Blom DJ, Raal FJ. Marais AD, et al. Among authors: blom dj. S Afr Med J. 2024 Mar 18;114(3):e1016. doi: 10.7196/SAMJ.2024.v114i3.1964. S Afr Med J. 2024. PMID: 38525564 Free article. No abstract available.
253 results