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Raphael Schiffmann

Showing results (121-130 of 225) with videos related to

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Neurology|November 14, 2019
Variation in cognitive function over time in Gaucher disease type 3Alta M Steward, Edythe Wiggs, Taylor Lindstrom, et al.
Muscle & Nerve|April 4, 2006
Enzyme replacement therapy and intraepidermal innervation density in Fabry diseaseRaphael Schiffmann, Peter Hauer, Barbara Freeman, et al.
American Journal of Medical Genetics. Part A|January 13, 2009
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19Thomas R Dennis, Gina N Raptoulis, Heather J Stalker, et al.
Pediatric Research|February 22, 2003
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph K Park, Eduard Orvisky, Nahid Tayebi, et al.
BMC Neurology|November 8, 2008
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical studySurya N Gupta, Markus Ries, Gary J Murray, et al.
Molecular Genetics and Metabolism Reports|August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry diseaseDaniel G Bichet, Roser Torra, Eric Wallace, et al.
Biochemical and Biophysical Research Communications|May 29, 2007
Screening for pharmacological chaperones in Fabry diseaseSang-Hoon Shin, Gary J Murray, Stefanie Kluepfel-Stahl, et al.
Advances in Therapy|May 27, 2024
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)Raphael Schiffmann, Eugen Mengel, Mary Wallace, et al.
Pharmacogenetics and Genomics|August 14, 2008
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperoneSang H Shin, Stefanie Kluepfel-Stahl, Adele M Cooney, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 17, 2009
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael Schiffmann, David G Warnock, Maryam Banikazemi, et al.
Pageof 23

Showing results (121-130 of 225) with videos related to

Sort By:
Pageof 23
Neurology|November 14, 2019
Variation in cognitive function over time in Gaucher disease type 3Alta M Steward, Edythe Wiggs, Taylor Lindstrom, et al.
Muscle & Nerve|April 4, 2006
Enzyme replacement therapy and intraepidermal innervation density in Fabry diseaseRaphael Schiffmann, Peter Hauer, Barbara Freeman, et al.
American Journal of Medical Genetics. Part A|January 13, 2009
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19Thomas R Dennis, Gina N Raptoulis, Heather J Stalker, et al.
Pediatric Research|February 22, 2003
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph K Park, Eduard Orvisky, Nahid Tayebi, et al.
BMC Neurology|November 8, 2008
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical studySurya N Gupta, Markus Ries, Gary J Murray, et al.
Molecular Genetics and Metabolism Reports|August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry diseaseDaniel G Bichet, Roser Torra, Eric Wallace, et al.
Biochemical and Biophysical Research Communications|May 29, 2007
Screening for pharmacological chaperones in Fabry diseaseSang-Hoon Shin, Gary J Murray, Stefanie Kluepfel-Stahl, et al.
Advances in Therapy|May 27, 2024
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)Raphael Schiffmann, Eugen Mengel, Mary Wallace, et al.
Pharmacogenetics and Genomics|August 14, 2008
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperoneSang H Shin, Stefanie Kluepfel-Stahl, Adele M Cooney, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 17, 2009
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael Schiffmann, David G Warnock, Maryam Banikazemi, et al.
Pageof 23