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Results 1 - 6 of 6 for Combined oxidative phosphorylation deficiency 3
  1. Combined oxidative phosphorylation deficiency 1 
    ... muscle. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  2. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  3. 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
  4. Deoxyguanosine kinase deficiency 
    ... depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Citation on PubMed Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med. 2008;59: ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  5. Primary coenzyme Q10 deficiency 
    ... q10 deficiency syndrome. Mol Syndromol. 2014 Jul;5(3-4):141-6. doi: 10.1159/000360490. Citation on PubMed or Free article on PubMed Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183- ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  6. Spastic paraplegia type 7 
    ... adulthood. The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in ... homeostasis and neurodegeneration. Cell Res. 2018 Mar;28(3):296-306. doi: 10.1038/cr.2018.17. ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics