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Results 1 - 5 of 5 for Combined oxidative phosphorylation deficiency 8
  1. Primary coenzyme Q10 deficiency 
    ... Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. Citation on PubMed ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  2. ACAD9 deficiency 
    ... dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation ... function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5): ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  3. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  4. Deoxyguanosine kinase deficiency 
    ... Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  5. Spastic paraplegia type 7 
    ... adulthood. The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in ... doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics