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Many of the previously described enzymatic assay methods for the diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have been dependent upon the measurement of radioisotope-labeled(More)
Summary: Maple syrup urine disease (MSUD) is caused by a congenital defect of the branched-chain α-ketoacid dehydrogenase complex (BCKADC), and is one of the target disorders in newborn screening.(More)
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