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Orphanet Journal of Rare Diseases
|
November 27, 2012
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, et al.
Orphanet Journal of Rare Diseases
|
December 6, 2019
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire
Esther Noël, Bertrand Dussol, Didier Lacombe, et al.
Molecular Genetics and Metabolism
|
January 10, 2012
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry
William R Wilcox, Gabor E Linthorst, Dominique P Germain, et al.
CNS Neuroscience & Therapeutics
|
June 15, 2016
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
Juan M Politei, Didier Bouhassira, Dominique P Germain, et al.
Retina (Philadelphia, Pa.)
|
October 1, 2019
IN VIVO OBSERVATION OF RETINAL VASCULAR DEPOSITS USING ADAPTIVE OPTICS IMAGING IN FABRY DISEASE
Andrea Sodi, Dominique P Germain, Daniela Bacherini, et al.
Molecular Genetics and Metabolism Reports
|
November 9, 2020
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
Robert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, et al.
La Revue De Medecine Interne
|
January 8, 2011
[Enzyme replacement therapy of lysosomal storage diseases]
D P Germain, C Boucly, R Y Carlier, et al.
Molecular Genetics and Metabolism
|
March 14, 2018
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz, Dominique P Germain, Robert J Desnick, et al.
Molecular Genetics and Metabolism
|
November 21, 2007
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
Christiane Auray-Blais, Denis Cyr, Aimé Ntwari, et al.
Molecular Genetics and Metabolism
|
August 12, 2011
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives
Arnold J Reuser, Frans W Verheijen, Deeksha Bali, et al.
Page
of 34
Search research articles
Search
Showing results (281-290 of 332) with videos related to
Sort By:
Page
of 34
Orphanet Journal of Rare Diseases
|
November 27, 2012
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, et al.
Orphanet Journal of Rare Diseases
|
December 6, 2019
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire
Esther Noël, Bertrand Dussol, Didier Lacombe, et al.
Molecular Genetics and Metabolism
|
January 10, 2012
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry
William R Wilcox, Gabor E Linthorst, Dominique P Germain, et al.
CNS Neuroscience & Therapeutics
|
June 15, 2016
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
Juan M Politei, Didier Bouhassira, Dominique P Germain, et al.
Retina (Philadelphia, Pa.)
|
October 1, 2019
IN VIVO OBSERVATION OF RETINAL VASCULAR DEPOSITS USING ADAPTIVE OPTICS IMAGING IN FABRY DISEASE
Andrea Sodi, Dominique P Germain, Daniela Bacherini, et al.
Molecular Genetics and Metabolism Reports
|
November 9, 2020
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
Robert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, et al.
La Revue De Medecine Interne
|
January 8, 2011
[Enzyme replacement therapy of lysosomal storage diseases]
D P Germain, C Boucly, R Y Carlier, et al.
Molecular Genetics and Metabolism
|
March 14, 2018
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz, Dominique P Germain, Robert J Desnick, et al.
Molecular Genetics and Metabolism
|
November 21, 2007
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
Christiane Auray-Blais, Denis Cyr, Aimé Ntwari, et al.
Molecular Genetics and Metabolism
|
August 12, 2011
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives
Arnold J Reuser, Frans W Verheijen, Deeksha Bali, et al.
Page
of 34