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Raphael Schiffmann

Showing results (41-50 of 225) with videos related to

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Ophthalmology|March 5, 2002
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IVJanine A Smith, Chi-Chao Chan, Ehud Goldin, et al.
Molecular Therapy. Nucleic Acids|October 24, 2013
HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent MannerXing-Li Meng, Yoshikatsu Eto, Raphael Schiffmann, et al.
AJNR. American Journal of Neuroradiology|June 19, 2003
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry diseaseDavid F Moore, Frank Ye, Raphael Schiffmann, et al.
Journal of Inherited Metabolic Disease|April 23, 2015
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry diseaseRaphael Schiffmann, Caren Swift, Xuan Wang, et al.
Molecular Genetics and Metabolism Reports|August 2, 2019
The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry diseaseRaphael Schiffmann, Daniel G Bichet, Elfrida Benjamin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2007
The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry diseaseJoe T R Clarke, Michael L West, Jan Bultas, et al.
Journal of Lipid Research|June 8, 2010
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cellsChristine R Kaneski, Raphael Schiffmann, Roscoe O Brady, et al.
The Lancet. Neurology|July 17, 2019
Diagnosis, prognosis, and treatment of leukodystrophiesMarjo S van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Is it Fabry disease?Raphael Schiffmann, Maria Fuller, Lorne A Clarke, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 6, 2005
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion settingRaphael Schiffmann, Markus Ries, Margaret Timmons, et al.
Pageof 23

Showing results (41-50 of 225) with videos related to

Sort By:
Pageof 23
Ophthalmology|March 5, 2002
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IVJanine A Smith, Chi-Chao Chan, Ehud Goldin, et al.
Molecular Therapy. Nucleic Acids|October 24, 2013
HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent MannerXing-Li Meng, Yoshikatsu Eto, Raphael Schiffmann, et al.
AJNR. American Journal of Neuroradiology|June 19, 2003
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry diseaseDavid F Moore, Frank Ye, Raphael Schiffmann, et al.
Journal of Inherited Metabolic Disease|April 23, 2015
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry diseaseRaphael Schiffmann, Caren Swift, Xuan Wang, et al.
Molecular Genetics and Metabolism Reports|August 2, 2019
The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry diseaseRaphael Schiffmann, Daniel G Bichet, Elfrida Benjamin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2007
The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry diseaseJoe T R Clarke, Michael L West, Jan Bultas, et al.
Journal of Lipid Research|June 8, 2010
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cellsChristine R Kaneski, Raphael Schiffmann, Roscoe O Brady, et al.
The Lancet. Neurology|July 17, 2019
Diagnosis, prognosis, and treatment of leukodystrophiesMarjo S van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Is it Fabry disease?Raphael Schiffmann, Maria Fuller, Lorne A Clarke, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 6, 2005
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion settingRaphael Schiffmann, Markus Ries, Margaret Timmons, et al.
Pageof 23