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Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.

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第一作者： Daniel G,Bichet

第一单位： Department of Medicine, Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada.

作者： Daniel G,Bichet ^[1] ; Roser,Torra ^[2] ; Eric,Wallace ^[3] ; Derralynn,Hughes ^[4] ; Roberto,Giugliani ^[5] ; Nina,Skuban ^[6] ; Eva,Krusinska ^[6] ; Ulla,Feldt-Rasmussen ^[7] ; Raphael,Schiffmann ^[8] ; Kathy,Nicholls ^[9]

作者单位： Department of Medicine, Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada. ^[1] Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. ^[2] Department of Medicine, University of Alabama, Birmingham, AL, USA. ^[3] Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK. ^[4] Medical Genetics Service, Department of Genetics, Institute of Biosciences, Institute of Basic Health Sciences, Faculty of Medicine, Faculty of Pharmacy (UFRGS) and, National Institute of Population Medical Genetics (INAGEMP), Porto Alegre, Brazil. ^[5] Amicus Therapeutics, Inc., Cranbury, NJ, USA. ^[6] Department of Medical Endocrinology and Metabolism, Rigshospitalet, National University Hospital, Copenhagen University, Copenhagen, Denmark. ^[7] Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA. ^[8] Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia. ^[9]

关键词 Chaperone Classic phenotype Efficacy Fabry disease GLP-HEK, Good Laboratory Practice-validated human embryonic kidney Gb3, globotriaosylceramide LVMi, left ventricular mass index Migalastat Q1, quartile 1 Q3, quartile 3 RI, renin inhibitor Renal function eGFRCKD-EPI, estimated glomerular filtration rate using the Chronic Kidney Disease Epidemiology Collaboration equation α-Gal A, α-galactosidase A

DOI 10.1016/j.ymgmr.2021.100786

PMID 34401344

发布时间 2023-05-01

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Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

2021年28卷

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Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.

Molecular genetics and metabolism reports

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Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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