Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease CM Eng, N Guffon, WR Wilcox, DP Germain, P Lee, S Waldek, L Caplan, ... New England Journal of Medicine 345 (1), 9-16, 2001 | 1904 | 2001 |
Fabry disease DP Germain Orphanet journal of rare diseases 5, 1-49, 2010 | 1405 | 2010 |
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy RJ Desnick, R Brady, J Barranger, AJ Collins, DP Germain, M Goldman, ... Annals of internal medicine 138 (4), 338-346, 2003 | 984 | 2003 |
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry WR Wilcox, JP Oliveira, RJ Hopkin, A Ortiz, M Banikazemi, ... Molecular genetics and metabolism 93 (2), 112-128, 2008 | 603 | 2008 |
Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ... New England Journal of Medicine 375 (6), 545-555, 2016 | 602 | 2016 |
Fabry disease revisited: management and treatment recommendations for adult patients A Ortiz, DP Germain, RJ Desnick, J Politei, M Mauer, A Burlina, C Eng, ... Molecular genetics and metabolism 123 (4), 416-427, 2018 | 589 | 2018 |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement CM Eng, DP Germain, M Banikazemi, DG Warnock, C Wanner, RJ Hopkin, ... Genetics in Medicine 8 (9), 539-548, 2006 | 553 | 2006 |
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease DP Germain, S Waldek, M Banikazemi, DA Bushinsky, J Charrow, ... Journal of the American Society of Nephrology 18 (5), 1547-1557, 2007 | 547 | 2007 |
Long-term safety and efficacy of enzyme replacement therapyfor fabry disease WR Wilcox, M Banikazemi, N Guffon, S Waldek, P Lee, GE Linthorst, ... The American Journal of Human Genetics 75 (1), 65-74, 2004 | 526 | 2004 |
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry CM Eng, J Fletcher, WR Wilcox, S Waldek, CR Scott, DO Sillence, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 476 | 2007 |
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ... Journal of medical genetics 54 (4), 288-296, 2017 | 441 | 2017 |
X‐chromosome inactivation in female patients with Fabry disease L Echevarria, K Benistan, A Toussaint, O Dubourg, AA Hagege, D Eladari, ... Clinical genetics 89 (1), 44-54, 2016 | 433 | 2016 |
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease DP Germain, J Charrow, RJ Desnick, N Guffon, J Kempf, RH Lachmann, ... Journal of medical genetics 52 (5), 353-358, 2015 | 400 | 2015 |
Ehlers-Danlos syndrome type IV DP Germain Orphanet Journal of Rare Diseases 2, 1-9, 2007 | 390 | 2007 |
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial KT Ong, J Perdu, J De Backer, E Bozec, P Collignon, J Emmerich, ... The Lancet 376 (9751), 1476-1484, 2010 | 386 | 2010 |
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document M Biegstraaten, R Arngrímsson, F Barbey, L Boks, F Cecchi, PB Deegan, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 365 | 2015 |
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry RJ Hopkin, J Bissler, M Banikazemi, L Clarke, CM Eng, DP Germain, ... Pediatric research 64 (5), 550-555, 2008 | 358 | 2008 |
Fabry disease: a review of current management strategies A Mehta, M Beck, F Eyskens, C Feliciani, I Kantola, U Ramaswami, ... QJM: An International Journal of Medicine 103 (9), 641-659, 2010 | 280 | 2010 |
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat ER Benjamin, MC Della Valle, X Wu, E Katz, F Pruthi, S Bond, B Bronfin, ... Genetics in Medicine 19 (4), 430-438, 2017 | 249 | 2017 |
Clinical and genetic features of vascular Ehlers-Danlos syndrome DP Germain Annals of vascular surgery 16 (3), 391-397, 2002 | 216 | 2002 |