Showing results (81-90 of 101) with videos related to
Sort By:
Pageof 11
Journal of Inherited Metabolic Disease|March 4, 2017
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosisStéphanie Paquay, Agnès Bourillon, Samia Pichard, et al.The Journal of Pediatrics|May 2, 2006
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension studyPaul Harmatz, Roberto Giugliani, Ida Schwartz, et al.Human Mutation|April 27, 2007
Mutational analysis of 105 mucopolysaccharidosis type VI patientsLitsa Karageorgos, Doug A Brooks, Anthony Pollard, et al.Journal of Inherited Metabolic Disease|May 31, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trialLine Borgwardt, Nathalie Guffon, Yasmina Amraoui, et al.Molecular Genetics and Metabolism|January 14, 2015
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndromePaul R Harmatz, Karl Eugen Mengel, Roberto Giugliani, 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 and Metabolism|May 27, 2008
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Roberto Giugliani, Ida Vanessa D Schwartz, et al.Orphanet Journal of Rare Diseases|March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registryVassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.Journal of Pediatric Rehabilitation Medicine|July 17, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseCeleste Decker, Zi-Fan Yu, Roberto Giugliani, et al.Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.Pageof 11