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P Germain

Showing results (271-280 of 332) with videos related to

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Journal of Medical Genetics|March 13, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroupDominique P Germain, João Paulo Oliveira, Daniel G Bichet, et al.
Journal of Inherited Metabolic Disease|March 10, 2007
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryC M Eng, J Fletcher, W R Wilcox, et al.
Heart (British Cardiac Society)|November 11, 2010
Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS studyAlbert A Hagège, Eric Caudron, Thibaud Damy, et al.
JIMD Reports|May 17, 2017
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry RegistryWilliam R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2017
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticumAnne Legrand, Laurence Cornez, Wafa Samkari, et al.
International Journal of Cardiology|December 6, 2022
Screening of Fabry disease in patients with an implanted permanent pacemakerZdenka Fingrova, Stepan Havranek, Libor Sknouril, et al.
European Journal of Heart Failure|July 9, 2020
An expert consensus document on the management of cardiovascular manifestations of Fabry diseaseAleš Linhart, Dominique P Germain, Iacopo Olivotto, et al.
Plos One|July 28, 2017
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseMagali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.
Molecular Genetics and Metabolism|November 11, 2018
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of expertsDominique P Germain, Michael Arad, Alessandro Burlina, et al.
Journal of the American Society of Nephrology : JASN|April 6, 2007
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique P Germain, Stephen Waldek, Maryam Banikazemi, et al.
Pageof 34

Showing results (271-280 of 332) with videos related to

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Pageof 34
Journal of Medical Genetics|March 13, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroupDominique P Germain, João Paulo Oliveira, Daniel G Bichet, et al.
Journal of Inherited Metabolic Disease|March 10, 2007
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryC M Eng, J Fletcher, W R Wilcox, et al.
Heart (British Cardiac Society)|November 11, 2010
Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS studyAlbert A Hagège, Eric Caudron, Thibaud Damy, et al.
JIMD Reports|May 17, 2017
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry RegistryWilliam R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2017
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticumAnne Legrand, Laurence Cornez, Wafa Samkari, et al.
International Journal of Cardiology|December 6, 2022
Screening of Fabry disease in patients with an implanted permanent pacemakerZdenka Fingrova, Stepan Havranek, Libor Sknouril, et al.
European Journal of Heart Failure|July 9, 2020
An expert consensus document on the management of cardiovascular manifestations of Fabry diseaseAleš Linhart, Dominique P Germain, Iacopo Olivotto, et al.
Plos One|July 28, 2017
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseMagali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.
Molecular Genetics and Metabolism|November 11, 2018
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of expertsDominique P Germain, Michael Arad, Alessandro Burlina, et al.
Journal of the American Society of Nephrology : JASN|April 6, 2007
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique P Germain, Stephen Waldek, Maryam Banikazemi, et al.
Pageof 34