X-chromosome inactivation in female patients with Fabry disease
Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., Germain, D.P.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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Journal Article
Fabry disease: a review of current management strategies
Mehta, A., Beck, M., Eyskens, F., Feliciani, C., Kantola, I., Ramaswami, U., Rolfs, A., Rivera, A., Waldek, S., Germain, D.P.
Published in QJM : An International Journal of Medicine (01.09.2010)
Published in QJM : An International Journal of Medicine (01.09.2010)
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Journal Article
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
Eng, C. M., Fletcher, J., Wilcox, W. R., Waldek, S., Scott, C. R., Sillence, D. O., Breunig, F., Charrow, J., Germain, D. P., Nicholls, K., Banikazemi, M.
Published in Journal of inherited metabolic disease (01.04.2007)
Published in Journal of inherited metabolic disease (01.04.2007)
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Journal Article
Natural history of the respiratory involvement in Anderson-Fabry disease
Magage, S, Lubanda, J.-C, Susa, Z, Bultas, J, Karetová, D, Dobrovolný, R, Hřebíček, M, Germain, D. P, Linhart, A
Published in Journal of inherited metabolic disease (01.10.2007)
Published in Journal of inherited metabolic disease (01.10.2007)
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Journal Article
Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids
Roy, S., Delobel, A., Gaudin, K., Touboul, D., Germain, D.P., Baillet, A., Prognon, P., Laprévote, O., Chaminade, P.
Published in Journal of Chromatography A (09.06.2006)
Published in Journal of Chromatography A (09.06.2006)
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Journal Article
Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease
Roy, S., Gaudin, K., Germain, D.P., Baillet, A., Prognon, P., Chaminade, P.
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.06.2004)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.06.2004)
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Journal Article
Basilar Artery Changes in Fabry Disease
Manara, R, Carlier, R Y, Righetto, S, Citton, V, Locatelli, G, Colas, F, Ermani, M, Germain, D P, Burlina, A
Published in American journal of neuroradiology : AJNR (01.03.2017)
Published in American journal of neuroradiology : AJNR (01.03.2017)
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Journal Article
Screening for Fabry disease in male patients with end-stage renal disease in western France
Vigneau, C., Germain, D.P., Larmet, D., Jabbour, F., Hourmant, M.
Published in Néphrologie & thérapeutique (01.06.2021)
Published in Néphrologie & thérapeutique (01.06.2021)
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Journal Article
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
WARNOCK, David G, ORTIZ, Alberto, LEMAY, Roberta, COLE, J. Alexander, SVARSTAD, Einar, WALDEK, Stephen, GERMAIN, Dominique P, WANNER, Christoph, MAUER, Michael, LINTHORST, Gabor E, OLIVEIRA, Joao P, SERRA, Andreas L, MARODI, László, MIGNANI, Renzo, VUJKOVAC, Bojan, BEITNER-JOHNSON, Dana
Published in Nephrology, dialysis, transplantation (01.03.2012)
Published in Nephrology, dialysis, transplantation (01.03.2012)
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Journal Article
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects
Giugliani, R., Waldek, S., Germain, D.P., Nicholls, K., Bichet, D.G., Simosky, J.K., Bragat, A.C., Castelli, J.P., Benjamin, E.R., Boudes, P.F.
Published in Molecular genetics and metabolism (01.05.2013)
Published in Molecular genetics and metabolism (01.05.2013)
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Journal Article
Arterial remodelling in Fabry disease
Boutouyrie, P, Laurent, S, Laloux, B, Lidove, O, Grunfeld, JP, Germain, DP
Published in Acta Paediatrica (01.11.2002)
Published in Acta Paediatrica (01.11.2002)
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Journal Article
Genetic aspects of mucopolysaccharidoses
Lacombe, D, Germain, D P
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2014)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.06.2014)
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Journal Article
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
Eng, Christine M, Guffon, Nathalie, Wilcox, William R, Germain, Dominique P, Lee, Philip, Waldek, Steve, Caplan, Louis, Linthorst, Gabor E, Desnick, Robert J
Published in The New England journal of medicine (05.07.2001)
Published in The New England journal of medicine (05.07.2001)
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Journal Article