Showing results (31-40 of 42) with videos related to
Sort By:
Pageof 5
ESC Heart Failure|October 15, 2017
Does cardiac resynchronization therapy restore peripheral circulatory homeostasis?Chukwudiebube N Ajaero, Cher-Rin Chong, Nathan E K Procter, et al.Molecular Genetics and Metabolism|February 17, 2009
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populationsCheryl R Greenberg, Louise A Dilling, G Robert Thompson, et al.Wellcome Open Research|June 13, 2022
Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type CIsabelle Williams, Sumeet Pandey, Wolfram Haller, et al.American Journal of Hematology|February 19, 2021
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life dataMajdolen Istaiti, Shoshana Revel-Vilk, Michal Becker-Cohen, et al.Nature Genetics|April 4, 2006
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionAntonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, et al.Trials|November 18, 2021
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveysAlison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.Orphanet Journal of Rare Diseases|October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurementAlison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.Pageof 5