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Newborn Screening for Medium Chain Acyl CoA Dehydrogenase Deficiency Using Tandem Mass Spectrometry: Clinical and Cost-effectiveness.

Last Updated: March 10, 2006
Result type: Reports

Technology Tandem mass spectrometry (MS/MS)-based newborn screening for medium chain acyl~CoA dehydrogenase deficiency (MCADD). Disease MCADD is an inherited metabolic disorder. In Canada, there are about 20 incident cases/year. Most MCADD patients are asymptomatic before an acute episode, which manifests with signs of encephalopathy, hypogly...