Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.-论文-万方医学网

第一作者： Dominique P,Germain

第一单位： From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

作者： Dominique P,Germain ^[1] ; Derralynn A,Hughes ^[1] ; Kathleen,Nicholls ^[1] ; Daniel G,Bichet ^[1] ; Roberto,Giugliani ^[1] ; William R,Wilcox ^[1] ; Claudio,Feliciani ^[1] ; Suma P,Shankar ^[1] ; Fatih,Ezgu ^[1] ; Hernan,Amartino ^[1] ; Drago,Bratkovic ^[1] ; Ulla,Feldt-Rasmussen ^[1] ; Khan,Nedd ^[1] ; Usama,Sharaf El Din ^[1] ; Charles M,Lourenco ^[1] ; Maryam,Banikazemi ^[1] ; Joel,Charrow ^[1] ; Majed,Dasouki ^[1] ; David,Finegold ^[1] ; Pilar,Giraldo ^[1] ; Ozlem,Goker-Alpan ^[1] ; Nicola,Longo ^[1] ; C Ronald,Scott ^[1] ; Roser,Torra ^[1] ; Ahmad,Tuffaha ^[1] ; Ana,Jovanovic ^[1] ; Stephen,Waldek ^[1] ; Seymour,Packman ^[1] ; Elizabeth,Ludington ^[1] ; Christopher,Viereck ^[1] ; John,Kirk ^[1] ; Julie,Yu ^[1] ; Elfrida R,Benjamin ^[2] ; Franklin,Johnson ; David J,Lockhart ; Nina,Skuban ; Jeff,Castelli ; Jay,Barth ; Carrolee,Barlow ; Raphael,Schiffmann

作者单位： From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa ^[1] From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospit ^[2]

主题词 1-脱氧野尻霉素(1-Deoxynojirimycin);青少年(Adolescent);成年人(Adult);老年人(Aged);腹泻(Diarrhea);双盲法(Double-Blind Method);法布里病(Fabry Disease);女(雌)性(Female);肾小球滤过率(Glomerular Filtration Rate);心室(Heart Ventricles);人类(Humans);肥大, 左心室(Hypertrophy, Left Ventricular);肾(Kidney);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);三己糖基神经酰胺类(Trihexosylceramides);超声检查(Ultrasonography);青年人(Young Adult);α半乳糖苷酶(alpha-Galactosidase)

DOI 10.1056/NEJMoa1510198

PMID 27509102

发布时间 2022-03-31

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Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

The New England journal of medicine

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The New England journal of medicine

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Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

The New England journal of medicine

相似文献

The New England journal of medicine

相关期刊

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