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Raphael Schiffmann

Showing results (91-100 of 225) with videos related to

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Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.
The Journal of Biological Chemistry|April 24, 2003
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanismsEmyr Lloyd-Evans, Dori Pelled, Christian Riebeling, et al.
Kidney International|August 26, 2004
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry diseaseMarkus Ries, Karen E Bove Bettis, Peter Choyke, et al.
Journal of Clinical Pharmacology|August 19, 2007
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries, Joe T Clarke, Catharina Whybra, et al.
Journal of Lipid Research|July 13, 2011
Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry miceBrandon Durant, Sabrina Forni, Lawrence Sweetman, et al.
Thrombosis Research|November 6, 2016
Oxidative stress reflected by increased F<sub>2</sub>-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B<sub>2</sub> levels in patients with coronary artery diseasePeter A McCullough, Anupama Vasudevan, Luis R Lopez, et al.
Movement Disorders Clinical Practice|March 7, 2019
Dystonia in RNA Polymerase III-Related LeukodystrophyGhalia Al Yazidi, Luan T Tran, Kether Guerrero, et al.
Human Mutation|August 9, 2005
Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2020
Assessment of plasma lyso-Gb<sub>3</sub> for clinical monitoring of treatment response in migalastat-treated patients with Fabry diseaseDaniel G Bichet, Johannes M Aerts, Christiane Auray-Blais, et al.
Kidney International|December 22, 2016
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies ConferenceRaphael Schiffmann, Derralynn A Hughes, Gabor E Linthorst, et al.
Pageof 23

Showing results (91-100 of 225) with videos related to

Sort By:
Pageof 23
Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.
The Journal of Biological Chemistry|April 24, 2003
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanismsEmyr Lloyd-Evans, Dori Pelled, Christian Riebeling, et al.
Kidney International|August 26, 2004
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry diseaseMarkus Ries, Karen E Bove Bettis, Peter Choyke, et al.
Journal of Clinical Pharmacology|August 19, 2007
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries, Joe T Clarke, Catharina Whybra, et al.
Journal of Lipid Research|July 13, 2011
Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry miceBrandon Durant, Sabrina Forni, Lawrence Sweetman, et al.
Thrombosis Research|November 6, 2016
Oxidative stress reflected by increased F<sub>2</sub>-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B<sub>2</sub> levels in patients with coronary artery diseasePeter A McCullough, Anupama Vasudevan, Luis R Lopez, et al.
Movement Disorders Clinical Practice|March 7, 2019
Dystonia in RNA Polymerase III-Related LeukodystrophyGhalia Al Yazidi, Luan T Tran, Kether Guerrero, et al.
Human Mutation|August 9, 2005
Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2020
Assessment of plasma lyso-Gb<sub>3</sub> for clinical monitoring of treatment response in migalastat-treated patients with Fabry diseaseDaniel G Bichet, Johannes M Aerts, Christiane Auray-Blais, et al.
Kidney International|December 22, 2016
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies ConferenceRaphael Schiffmann, Derralynn A Hughes, Gabor E Linthorst, et al.
Pageof 23