Dominique P. Germain
Dominique P. Germain
Paris Saclay University, University of Versailles, Division of Medical Genetics
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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
16272001
Fabry disease
DP Germain
Orphanet journal of rare diseases 5 (1), 30, 2010
8052010
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
7782003
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
4582008
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
4522004
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
4372007
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
4242006
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
3522007
Ehlers-Danlos syndrome type IV
DP Germain
Orphanet journal of rare diseases 2 (1), 32, 2007
2882007
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
2632010
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
2402008
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
2262016
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
2062015
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
2022010
Clinical and genetic features of vascular Ehlers-Danlos syndrome
DP Germain
Annals of vascular surgery 16 (3), 391-397, 2002
1912002
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), 36, 2015
1842015
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
1742016
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
1682017
Vascular Ehlers–Danlos syndrome
DP Germain, Y Herrera-Guzman
Annales de genetique 47 (1), 1-9, 2004
1462004
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease
JE Wraith, A Tylki-Szymanska, N Guffon, YH Lien, M Tsimaratos, A Vellodi, ...
The Journal of pediatrics 152 (4), 563-570. e1, 2008
1452008
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