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Reg Stud Mar Sci 57:102757
Ethylmalonic encephalopathy is characterized by encephalopathy, microangiopathy, chronic diarrhea, defective cytochrome c oxidase in muscle and brain, high concentrations of C4 and C5 acylcarnitines in blood (perhaps due to inhibition of short-chain acyl-CoA dehydrogenase by H 2 S), and high excretion of ethylmalonic acid in urine (Burlina et al
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