Dominique P. Germain

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William WilcoxProfessor of Human Genetics, Emory UniversityVerifierad e-postadress på emory.edu
Christoph WannerWürzburg UniversityVerifierad e-postadress på medizin.uni-wuerzburg.de
Robert HopkinProfessor of Clinical Pediatrics Cincinnati Children's Hospital Medical Center Divsion of HumanVerifierad e-postadress på cchmc.org
Alberto OrtizIIS-Fundacion Jimenez Diaz, School of Medicine; UAM; Madrid, SpainVerifierad e-postadress på fjd.es
Derralynn HughesUCLVerifierad e-postadress på ucl.ac.uk
Nicholls, kRoyal Melbourne HospitalVerifierad e-postadress på mh.org.au
Roberto GiuglianiHead of Rare Diseases DASA, Founder CASA DOS RAROS, Med Genet Serv HCPA, Dep Genetics & PPGBM UFRGSVerifierad e-postadress på hcpa.edu.br
Michael Maueruniversity of minnesotaVerifierad e-postadress på umn.edu
M.J. Hilz Professor of Neurology, University of Erlangen-NurembergVerifierad e-postadress på uk-erlangen.de
Perry ElliottProfessor of Cardiovascular Medicine, University College London, Barts Heart Centre, St BartholomewVerifierad e-postadress på ucl.ac.uk
Boutouyrie PierreProfesseur de Pharmacologie, Université Paris Cité, INSERM PARCC, APHPVerifierad e-postadress på aphp.fr
Bojan VujkovacVerifierad e-postadress på guest.arnes.si
daniel bichetProfessor of Medicine, University of MontrealVerifierad e-postadress på umontreal.ca
Dawn A LaneyAssistant Professor, Emory UniversityVerifierad e-postadress på emory.edu
Gregory PastoresUniversity College DublinVerifierad e-postadress på mater.ie
Raphael SchiffmannTexas NeurologyVerifierad e-postadress på texasneurology.com
olivier laprevotePU-PH, Professeur de Toxicologie, Université Paris DescartesVerifierad e-postadress på parisdescartes.fr
David TouboulCNRS, Ecole PolytechniqueVerifierad e-postadress på cnrs.fr
Maurizio PieroniCardiovascular Department San Donato Hospital Arezzo, ItalyVerifierad e-postadress på uslsudest.toscana.it
Bruno FalissardC&A Psychiatrist, Prof. in Public Health at Univ. Paris-Sud, past-president of IACAPAPVerifierad e-postadress på u-psud.fr

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Dominique P. Germain

Paris Saclay University, University of Versailles, Division of Medical Genetics

Verifierad e-postadress på uvsq.fr - Startsida

Genetics Medicine Fabry disease Gene therapy


Titel Sortera efter citat Sortera efter år Sortera efter titel	Citeras av Citeras av	År
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	1896	2001
Fabry disease DP Germain Orphanet journal of rare diseases 5, 1-49, 2010	1368	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	969	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	595	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	586	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	555	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	544	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	542	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	523	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	466	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	427	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	419	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	389	2015
Ehlers-Danlos syndrome type IV DP Germain Orphanet Journal of Rare Diseases 2, 1-9, 2007	389	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	385	2010
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	356	2008
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	352	2015
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	281	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	242	2017
Clinical and genetic features of vascular Ehlers-Danlos syndrome DP Germain Annals of vascular surgery 16 (3), 391-397, 2002	215	2002

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