Showing results (41-50 of 55) with videos related to
Sort By:
Pageof 6
Orphanet Journal of Rare Diseases|June 9, 2012
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type CBénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, et al.Heart Rhythm|July 21, 2015
Carnitine deficiency induces a short QT syndromeJulien Roussel, François Labarthe, Jerome Thireau, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 9, 2023
Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolitesBruno Lefort, Roselle Gélinas, Anik Forest, et al.Journal of Molecular and Cellular Cardiology|April 23, 2011
Post-translational modifications, a key process in CD36 function: lessons from the spontaneously hypertensive rat heartBenjamin Lauzier, Clémence Merlen, Fanny Vaillant, et al.Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2022
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis reportPriya S Kishnani, David Kronn, Anaïs Brassier, et al.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 31, 2025
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase AlfaDavid Kronn, James Davison, Alexander Broomfield, et al.The Lancet. Child & Adolescent Health|November 25, 2021
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe ConsortiumImke Anne Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, et al.Journal of Lipid Research|January 24, 2016
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in FranceRené Wintjens, Dominique Bozon, Khaldia Belabbas, et al.Pageof 6