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Month: December 2020

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiencyUnderstanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency

nemadminnemadmin December 20, 2020December 20, 2020 0 Comment

Mitochondria provide the main source of energy for eukaryotic cells, oxidizing fatty acids and sugars to generate ATP. Mitochondrial fatty

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Recent Posts

  • Development of iPSC-based clinical trial selection platform for ECHS1 patients
  • ECHS1 deficiency and its biochemical and clinical phenotype
  • Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH)
  • C-Path and Cure Mito Announce Data Sharing Agreement to Support Treatment Development For Leigh Syndrome and Mitochondrial Disease
  • Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency

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