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P Germain

Showing results (311-320 of 332) with videos related to

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Molecular Genetics and Metabolism|December 8, 2022
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension studyPatrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, et al.
Molecular Genetics and Metabolism|May 26, 2023
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry communityChristoph Wanner, Alberto Ortiz, William R Wilcox, et al.
Neuromuscular Disorders : NMD|July 30, 2014
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, et al.
European Journal of Medical Genetics|June 15, 2019
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in malesJoão P Oliveira, Albina Nowak, Frédéric Barbey, et al.
Journal of Medical Genetics|March 20, 2016
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry RegistryAlberto Ortiz, Ademola Abiose, Daniel G Bichet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2013
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry RegistryDominique P Germain, Frank Weidemann, Ademola Abiose, et al.
Molecular Genetics and Metabolism|January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry RegistryRobert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
Molecular Genetics & Genomic Medicine|April 9, 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry diseaseDominique P Germain, Sergey Moiseev, Fernando Suárez-Obando, et al.
Molecular Genetics and Metabolism|November 27, 2007
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox, João Paulo Oliveira, Robert J Hopkin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
Pageof 34

Showing results (311-320 of 332) with videos related to

Sort By:
Pageof 34
Molecular Genetics and Metabolism|December 8, 2022
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension studyPatrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, et al.
Molecular Genetics and Metabolism|May 26, 2023
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry communityChristoph Wanner, Alberto Ortiz, William R Wilcox, et al.
Neuromuscular Disorders : NMD|July 30, 2014
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, et al.
European Journal of Medical Genetics|June 15, 2019
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in malesJoão P Oliveira, Albina Nowak, Frédéric Barbey, et al.
Journal of Medical Genetics|March 20, 2016
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry RegistryAlberto Ortiz, Ademola Abiose, Daniel G Bichet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2013
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry RegistryDominique P Germain, Frank Weidemann, Ademola Abiose, et al.
Molecular Genetics and Metabolism|January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry RegistryRobert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
Molecular Genetics & Genomic Medicine|April 9, 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry diseaseDominique P Germain, Sergey Moiseev, Fernando Suárez-Obando, et al.
Molecular Genetics and Metabolism|November 27, 2007
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox, João Paulo Oliveira, Robert J Hopkin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
Pageof 34