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Results 1 - 10 of 12 for Combined oxidative phosphorylation deficiency
  1. Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens ...
  2. ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
  3. ... the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1. This condition causes severe neurologic and liver ... the neurological and liver problems in people with combined oxidative phosphorylation deficiency 1. It is thought that other tissues that ...
  4. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  5. Mitochondrial Myopathies From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
  6. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
  7. ... cause a form of 2-hydroxyglutaric aciduria called combined D,L-2-hydroxyglutaric aciduria (D,L-2- ... contributes to the severe signs and symptoms of combined D,L-2-HGA More About This Health ...
  8. ... A, de Coo IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an ... dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation ... function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5): ...
  9. ... apparent in infancy and causes severe brain dysfunction combined with muscle weakness (encephalomyopathy) and the failure of ... Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183- ...
  10. ... Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients ...
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