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P Germain

Showing results (321-330 of 332) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatElfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.
Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.
Orphanet Journal of Rare Diseases|February 14, 2026
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare DiseasesClaire Douillard, Aurélia Poujois, Nadia Belmatoug, et al.
Molecular Genetics and Metabolism|July 19, 2018
European expert consensus statement on therapeutic goals in Fabry diseaseChristoph Wanner, Michael Arad, Ralf Baron, et al.
Molecular Genetics and Metabolism|December 4, 2014
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studiesSusana Ferreira, Alberto Ortiz, Dominique P Germain, et al.
Orphanet Journal of Rare Diseases|November 1, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, et al.
Genetics in Medicine Open|January 19, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry diseaseDominique P Germain, Fatma Al-Jasmi, Gheona Altarescu, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus documentMarieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, et al.
Neurology|October 31, 2014
Familial occurrence and heritable connective tissue disorders in cervical artery dissectionStéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, et al.
Pageof 34

Showing results (321-330 of 332) with videos related to

Sort By:
Pageof 34
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatElfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.
Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.
Orphanet Journal of Rare Diseases|February 14, 2026
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare DiseasesClaire Douillard, Aurélia Poujois, Nadia Belmatoug, et al.
Molecular Genetics and Metabolism|July 19, 2018
European expert consensus statement on therapeutic goals in Fabry diseaseChristoph Wanner, Michael Arad, Ralf Baron, et al.
Molecular Genetics and Metabolism|December 4, 2014
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studiesSusana Ferreira, Alberto Ortiz, Dominique P Germain, et al.
Orphanet Journal of Rare Diseases|November 1, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, et al.
Genetics in Medicine Open|January 19, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry diseaseDominique P Germain, Fatma Al-Jasmi, Gheona Altarescu, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus documentMarieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, et al.
Neurology|October 31, 2014
Familial occurrence and heritable connective tissue disorders in cervical artery dissectionStéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, et al.
Pageof 34