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Results 1 - 1 of 1 for Combined oxidative phosphorylation defect type 27
  1. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    ... essential for the process of energy production (called oxidative phosphorylation). The production of nucleotides by p53R2 helps maintain ... Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME ... Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics