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- W2019101535 abstract "Two infants with elevated levels of methylmalonic acid in plasma and urine were found to have abnormal metabolism of propionate-1- 14 C in cultivated skin fibroblasts and deficient activity of methylmalonyl CoA carbonyl mutase in homogenates of liver and fibroblasts. Addition of 5′-deoxyadenosylcobalamin to the assay systems corrected these defects. Despite the in vitro responses, parenteral treatment of the patients with high doses of vitamin B 12 failed to decrease plasma or urinary methylmalonic acid. One of the patients exhibited significant hyperammonemia but failed to develop acidosis or ketosis throughout her clinical course. The significance of this new variant of methylmalonic acidemia with respect to the enzymatic basis of this inborn error and with respect to prenatal detection and genetic counseling is discussed." @default.
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- W2019101535 title "In vitro “responsive” methylmalonic acidemia: A new variant" @default.
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- W2019101535 doi "https://doi.org/10.1016/s0022-3476(74)80285-4" @default.
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