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Raphael Schiffmann

Showing results (151-160 of 225) with videos related to

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Journal of Magnetic Resonance Imaging : JMRI|September 25, 2004
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging studyDavid F Moore, Frank Ye, Marie-Luise Brennan, et al.
Virchows Archiv : an International Journal of Pathology|August 4, 2007
Cellular and tissue localization of globotriaosylceramide in Fabry diseaseHasan Askari, Christine R Kaneski, Cristina Semino-Mora, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 20, 2019
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaFanny Mochel, Cécile Delorme, Virginie Czernecki, et al.
Journal of Inherited Metabolic Disease|November 8, 2017
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcomeRaphael Schiffmann, Mary E Wallace, Daisy Rinaldi, et al.
Pediatrics|September 5, 2006
Enzyme-replacement therapy with agalsidase alfa in children with Fabry diseaseMarkus Ries, Joe T R Clarke, Catharina Whybra, et al.
Stroke|February 2, 2002
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacementDavid F Moore, Gheona Altarescu, Geoffrey S F Ling, et al.
Human Mutation|May 21, 2011
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseaseXiaoyang Wu, Evan Katz, Maria Cecilia Della Valle, et al.
Archives of Dermatology|November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephewStéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.
Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions|December 2, 2017
Prognostic value of urinary 11-dehydro-thromboxane B<sub>2</sub> for mortality: A cohort study of stable coronary artery disease patients treated with aspirinAnupama Vasudevan, Kristen M Tecson, Jeanna Bennett-Firmin, et al.
Molecular Genetics and Metabolism Reports|October 3, 2022
Dysregulated DNA methylation in the pathogenesis of Fabry diseaseJin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, et al.
Pageof 23

Showing results (151-160 of 225) with videos related to

Sort By:
Pageof 23
Journal of Magnetic Resonance Imaging : JMRI|September 25, 2004
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging studyDavid F Moore, Frank Ye, Marie-Luise Brennan, et al.
Virchows Archiv : an International Journal of Pathology|August 4, 2007
Cellular and tissue localization of globotriaosylceramide in Fabry diseaseHasan Askari, Christine R Kaneski, Cristina Semino-Mora, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 20, 2019
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaFanny Mochel, Cécile Delorme, Virginie Czernecki, et al.
Journal of Inherited Metabolic Disease|November 8, 2017
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcomeRaphael Schiffmann, Mary E Wallace, Daisy Rinaldi, et al.
Pediatrics|September 5, 2006
Enzyme-replacement therapy with agalsidase alfa in children with Fabry diseaseMarkus Ries, Joe T R Clarke, Catharina Whybra, et al.
Stroke|February 2, 2002
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacementDavid F Moore, Gheona Altarescu, Geoffrey S F Ling, et al.
Human Mutation|May 21, 2011
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseaseXiaoyang Wu, Evan Katz, Maria Cecilia Della Valle, et al.
Archives of Dermatology|November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephewStéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.
Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions|December 2, 2017
Prognostic value of urinary 11-dehydro-thromboxane B<sub>2</sub> for mortality: A cohort study of stable coronary artery disease patients treated with aspirinAnupama Vasudevan, Kristen M Tecson, Jeanna Bennett-Firmin, et al.
Molecular Genetics and Metabolism Reports|October 3, 2022
Dysregulated DNA methylation in the pathogenesis of Fabry diseaseJin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, et al.
Pageof 23