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Raphael Schiffmann

Showing results (131-140 of 225) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|February 16, 2007
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalitiesDavid F Moore, Oleg V Krokhin, Ronald C Beavis, et al.
Journal of Inherited Metabolic Disease|March 11, 2016
Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry miceXing-Li Meng, Taniqua S Day, Nathan McNeill, et al.
American Journal of Human Genetics|April 23, 2003
Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, et al.
Nature Communications|August 15, 2014
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IVCheng-Chang Chen, Marco Keller, Martin Hess, et al.
The Journal of Nutrition|May 25, 2023
Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal LeakIfechukwude Ebenuwa, Pierre-Christian Violet, Sebastian J Padayatty, et al.
Molecular Genetics and Metabolism|October 11, 2011
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implicationsAegean Chan, Walter M Holleran, Tajh Ferguson, et al.
Muscle & Nerve|October 29, 2002
Physiological characterization of neuropathy in Fabry's diseaseCarlos A Luciano, James W Russell, Tapas K Banerjee, et al.
The Journal of Pediatrics|January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry diseaseRaphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Molecular Genetics and Metabolism|July 6, 2004
Neuropathology provides clues to the pathophysiology of Gaucher diseaseKondi Wong, Ellen Sidransky, Ajay Verma, et al.
Journal of the American Society of Nephrology : JASN|April 10, 2009
Agalsidase alfa and kidney dysfunction in Fabry diseaseMichael West, Kathy Nicholls, Atul Mehta, et al.
Pageof 23

Showing results (131-140 of 225) with videos related to

Sort By:
Pageof 23
Proceedings of the National Academy of Sciences of the United States of America|February 16, 2007
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalitiesDavid F Moore, Oleg V Krokhin, Ronald C Beavis, et al.
Journal of Inherited Metabolic Disease|March 11, 2016
Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry miceXing-Li Meng, Taniqua S Day, Nathan McNeill, et al.
American Journal of Human Genetics|April 23, 2003
Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, et al.
Nature Communications|August 15, 2014
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IVCheng-Chang Chen, Marco Keller, Martin Hess, et al.
The Journal of Nutrition|May 25, 2023
Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal LeakIfechukwude Ebenuwa, Pierre-Christian Violet, Sebastian J Padayatty, et al.
Molecular Genetics and Metabolism|October 11, 2011
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implicationsAegean Chan, Walter M Holleran, Tajh Ferguson, et al.
Muscle & Nerve|October 29, 2002
Physiological characterization of neuropathy in Fabry's diseaseCarlos A Luciano, James W Russell, Tapas K Banerjee, et al.
The Journal of Pediatrics|January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry diseaseRaphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Molecular Genetics and Metabolism|July 6, 2004
Neuropathology provides clues to the pathophysiology of Gaucher diseaseKondi Wong, Ellen Sidransky, Ajay Verma, et al.
Journal of the American Society of Nephrology : JASN|April 10, 2009
Agalsidase alfa and kidney dysfunction in Fabry diseaseMichael West, Kathy Nicholls, Atul Mehta, et al.
Pageof 23