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Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.
Peretti N, Vimont A, Mas E, Lemale J, Reynaud R, Tounian P, Poinsot P, Restier L, Paillard F, Pradignac A, Pucheu Y, Rabès JP, Bruckert E, Gallo A, Béliard S. Peretti N, et al. Among authors: bruckert e. Arch Pediatr. 2024 Apr;31(3):188-194. doi: 10.1016/j.arcped.2024.01.004. Epub 2024 Mar 27. Arch Pediatr. 2024. PMID: 38538465 Free article.
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network; Boileau C, Varret M, Rabès JP. Marduel M, et al. Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348. Hum Mutat. 2010. PMID: 20809525 Free PMC article.
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Abifadel M, Guerin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C. Abifadel M, et al. Among authors: bruckert e. Atherosclerosis. 2012 Aug;223(2):394-400. doi: 10.1016/j.atherosclerosis.2012.04.006. Epub 2012 May 17. Atherosclerosis. 2012. PMID: 22683120
462 results