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Molecular Genetics and Metabolism|December 6, 2005
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentationManuel Schiff, Virginie Levrat, Cécile Acquaviva, et al.Molecular Genetics and Metabolism|July 20, 2010
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome SurveyBarbara K Burton, Nathalie Guffon, Jane Roberts, et al.Orphanet Journal of Rare Diseases|December 6, 2025
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type INathalie Guffon, Magali Pettazzoni, Nicolas Pangaud, et al.Journal of Clinical Medicine|February 25, 2022
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in FranceWladimir Mauhin, Raphaël Borie, Florence Dalbies, et al.Molecular Genetics and Metabolism|August 28, 2007
Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiencyToshiyuki Fukao, Gaixiu Zhang, Marie-Odile Rolland, et al.Developmental Medicine and Child Neurology|September 12, 2017
Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort studyDavid Viskochil, Joseph Muenzer, Nathalie Guffon, et al.Orthopedic Reviews|August 3, 2011
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome SurveyBianca Link, Louise Lapagesse de Camargo Pinto, Roberto Giugliani, et al.European Journal of Medical Genetics|July 7, 2009
A new mutation in COG7 extends the spectrum of COG subunit deficienciesRenate Zeevaert, François Foulquier, David Cheillan, et al.The Journal of Pediatrics|March 19, 2008
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry diseaseJ Edmond Wraith, Anna Tylki-Szymanska, Nathalie Guffon, et al.Journal of Inherited Metabolic Disease|October 11, 2013
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VIPaul R Harmatz, Paula Garcia, Nathalie Guffon, et al.Pageof 11