首页> Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis> Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.

Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.

导出 LinkOut

翻译打印收藏纠错

第一作者： Grégoire,Albenque

第一单位： Department of Cardiology, Amiens University Hospital, Amiens, France.;Department of Congenital Heart Disease, Marie Lannelongue Hospital, BME lab, Centre Constitutif Réseau M3C Cardiopathies Congénitales Complexes, Groupe Hospitalier Paris Saint Joseph, Faculté de Médecine, Université Paris-Saclay, Le Plessis-Robinson, France.

作者： Grégoire,Albenque ^[1] ; Mélanie,Bézard ^[2] ; Mounira,Kharoubi ^[2] ; Shirley,Odouard ^[2] ; Ariane,Lunati ^[2] ; Elsa,Poullot ^[3] ; Amira,Zaroui ^[2] ; Emmanuel,Teiger ^[2] ; Luc,Hittinger ^[2] ; Vincent,Audard ^[4] ; Khalil,El Karoui ^[5] ; Benoît,Funalot ^[6] ; Pascale,Fanen ^[6] ; Thibaud,Damy ^[2] ; Silvia,Oghina ^[2]

作者单位： Department of Cardiology, Amiens University Hospital, Amiens, France.;Department of Congenital Heart Disease, Marie Lannelongue Hospital, BME lab, Centre Constitutif Réseau M3C Cardiopathies Congénitales Complexes, Groupe Hospitalier Paris Saint Joseph, Faculté de Médecine, Université Paris-Saclay, Le Plessis-Robinson, France. ^[1] Department of Cardiology, DHU A-TVB, CHU Henri Mondor, AP-HP, INSERM U955 and UPEC, Créteil, France.;Referral Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute, Reseau amylose, Créteil, France. Filière CARDIOGEN. ^[2] Referral Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute, Reseau amylose, Créteil, France. Filière CARDIOGEN.;Department of Pathology, Henri Mondor Teaching Hospital, APHP, Creteil, France. ^[3] Referral Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute, Reseau amylose, Créteil, France. Filière CARDIOGEN.;Department of Nephrology and Transplantation, Centre de Référence Maladie Rare « Syndrome Néphrotique Idiopathique », Fédération Hospitalo-Universitaire « Innovative therapy for immune disorders », Henri Mondor teaching Hospital, APHP, Créteil, France.;Univ Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France. ^[4] Department of Nephrology, Tenon Teaching Hospital, APHP, Paris, France. ^[5] Referral Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute, Reseau amylose, Créteil, France. Filière CARDIOGEN.;Department of Genetics, Henri Mondor Teaching Hospital, APHP, Creteil, France. ^[6]

关键词 Cardiac amyloidosis hereditary amyloidosis hereditary transthyretin amyloidosis homozygote p.Val142Ile; V122I mutation