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Long-term efficacy of migalastat in females with Fabry disease.

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第一作者： Staci,Kallish

第一单位： Division of Translational Medicine and Human Genetics, Department of Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA staci.kallish@pennmedicine.upenn.edu.

作者： Staci,Kallish ^[1] ; Antonia,Camporeale ^[2] ; Robert J,Hopkin ^[3] ; Ana,Jovanovic ^[4] ; Peter,Nordbeck ^[5] ; Biliana O,Veleva-Rotse ^[6] ; Eva,Krusinska ^[6] ; Roser,Torra ^[7]

作者单位： Division of Translational Medicine and Human Genetics, Department of Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA staci.kallish@pennmedicine.upenn.edu. ^[1] Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy. ^[2] Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.;University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. ^[3] Northern Care Alliance NHS Foundation Trust and Manchester University, Manchester, UK. ^[4] University Hospital Würzburg, Würzburg, Germany. ^[5] Amicus Therapeutics, Inc, Princeton, New Jersey, USA. ^[6] Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, IR Sant Pau, RICORS2040, Universitat Autònoma de Barcelona, Barcelona, Spain. ^[7]

关键词 Cardiovascular Diseases Fabry Disease Genetic Diseases, X-Linked Genetics Mutation