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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 21, 2020
Correction: Assessment of plasma lyso-Gb<sub>3</sub> for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Daniel G Bichet, Johannes M Aerts, Christiane Auray-Blais, et al.
Nephron
|
June 30, 2025
Expanded View of the Pathophysiology of Fabry Disease
Stanislav Kmoch, Martina Živná, Moran Dvela-Levitt, et al.
Human Mutation
|
November 4, 2004
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV
Ehud Goldin, Stefanie Stahl, Adele M Cooney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2017
Low frequency of Fabry disease in patients with common heart disease
Raphael Schiffmann, Caren Swift, Nathan McNeill, et al.
Molecular Genetics and Metabolism
|
August 19, 2008
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
Jin-Song Shen, Xing-Li Meng, David F Moore, et al.
Plos One
|
December 18, 2009
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders
Laetitia Horzinski, Aurélia Huyghe, Marie-Céleste Cardoso, et al.
JIMD Reports
|
November 6, 2023
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, et al.
Blood Cells, Molecules & Diseases
|
June 18, 2002
Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy
Raphael Schiffmann, Henry Mankin, James M Dambrosia, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
May 28, 2008
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
David F Moore, Ehud Goldin, Monique P Gelderman, et al.
The Journal of Biological Chemistry
|
November 30, 2011
Early alterations of brain cellular energy homeostasis in Huntington disease models
Fanny Mochel, Brandon Durant, Xingli Meng, et al.
Page
of 23
Search research articles
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Showing results (101-110 of 225) with videos related to
Sort By:
Page
of 23
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 21, 2020
Correction: Assessment of plasma lyso-Gb<sub>3</sub> for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Daniel G Bichet, Johannes M Aerts, Christiane Auray-Blais, et al.
Nephron
|
June 30, 2025
Expanded View of the Pathophysiology of Fabry Disease
Stanislav Kmoch, Martina Živná, Moran Dvela-Levitt, et al.
Human Mutation
|
November 4, 2004
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV
Ehud Goldin, Stefanie Stahl, Adele M Cooney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2017
Low frequency of Fabry disease in patients with common heart disease
Raphael Schiffmann, Caren Swift, Nathan McNeill, et al.
Molecular Genetics and Metabolism
|
August 19, 2008
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
Jin-Song Shen, Xing-Li Meng, David F Moore, et al.
Plos One
|
December 18, 2009
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders
Laetitia Horzinski, Aurélia Huyghe, Marie-Céleste Cardoso, et al.
JIMD Reports
|
November 6, 2023
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, et al.
Blood Cells, Molecules & Diseases
|
June 18, 2002
Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy
Raphael Schiffmann, Henry Mankin, James M Dambrosia, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
May 28, 2008
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
David F Moore, Ehud Goldin, Monique P Gelderman, et al.
The Journal of Biological Chemistry
|
November 30, 2011
Early alterations of brain cellular energy homeostasis in Huntington disease models
Fanny Mochel, Brandon Durant, Xingli Meng, et al.
Page
of 23