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Results 1 - 2 of 2 for Combined oxidative phosphorylation deficiency 41
  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. 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