Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis
比较两种用于肥厚型心肌病诊断的基因检测策略:对法布里病或转甲状腺素蛋白淀粉样变性诊断的影响
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03815-z
Palmyre, Aurélien; Koraichi, Fairouz; Ader, Flavie; Donal, Erwan; Bordet, Céline; de Groote, Pascal; Faivre, Laurence; Reant, Patricia; Toutain, Annick; Nguyen, Karine; Isidor, Bertrand; Brehin, Anne-Claire; Legrand, Lise; Gandjbakhch, Estelle; Proukhnitzky, Julie; Isnard, Richard; Mansencal, Nicolas; Pruny, Jean-François; Rabes, Jean-Pierre; Francou, Bruno; Caillaud, Catherine; Richard, Pascale; Charron, Philippe