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Pediatrics|January 9, 2013
Severe combined immunodeficiency resulting from mutations in MTHFD1Michael D Keller, Jaya Ganesh, Meredith Heltzer, et al.Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.Molecular Genetics and Metabolism|January 29, 2026
Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromesSteven H Lang, Naiga Cottingham, Colleen Donnelly, et al.Archives of Neurology|August 13, 2008
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationsAntonella Spinazzola, René Santer, Orhan H Akman, et al.Journal of Inherited Metabolic Disease|September 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase DeficiencyMaurizio Scarpa, George A Diaz, Roberto Giugliani, et al.Journal of Inherited Metabolic Disease|July 27, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension StudiesMarkey McNutt, Frank Rutsch, Rossana Sanchez Russo, et al.JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.Frontiers in Neurology|August 28, 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypesTatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, et al.Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.Pageof 6