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Results 1 - 2 of 2 for Combined oxidative phosphorylation deficiency 47
  1. 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
  2. ACAD9 deficiency 
    ... Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics