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Biochimica Et Biophysica Acta|May 10, 2005
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studiesEva Schmidt, Jean-Marc Nuoffer, Johannes Häberle, et al.Journal of Inherited Metabolic Disease|October 9, 2024
Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosisNathalie Guffon, Line Borgwardt, Anna Tylki-Szymańska, et al.Molecular Genetics and Metabolism|May 3, 2018
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosisPaul Harmatz, Federica Cattaneo, Diego Ardigò, et al.Pediatrics|July 4, 2007
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)J Edmond Wraith, Michael Beck, Roderick Lane, et al.Orphanet Journal of Rare Diseases|December 23, 2022
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey studyNathalie Guffon, Delphine Genevaz, Didier Lacombe, et al.American Journal of Human Genetics|May 22, 2004
Long-term safety and efficacy of enzyme replacement therapy for Fabry diseaseWilliam R Wilcox, Maryam Banikazemi, Nathalie Guffon, et al.American Journal of Medical Genetics. Part A|July 23, 2022
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registryLynda E Polgreen, Luisa Bay, Lorne A Clarke, et al.Journal of Inherited Metabolic Disease|February 28, 2023
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter studyNathalie Guffon, Vassiliki Konstantopoulou, Julia B Hennermann, et al.Annales De Medecine Interne|September 10, 2002
[Fabry's disease and hypoparathyroidism]Laurent Misery, Madeleine Gregoire, Fabienne Prieur, et al.Biochimica Et Biophysica Acta|February 8, 2011
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyToshiyuki Fukao, Jörn Oliver Sass, Petri Kursula, et al.Pageof 11