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Impaired activity of methionine synthase results in elevated blood concentrations of homocysteine, while impaired activity of L-methylmalonyl-CoA mutase results in increased concentrations of a metabolite of methylmalonyl-CoA called methylmalonic acid (MMA) in blood and urine

10.1126/science.1137450 72 Le RouxN.CabezasC.BhmU

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