Jacob H Ruiter

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The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October(More)
Long-chain fatty acid beta-oxidation defects are associated with a series of clinical and biochemical abnormalities, including accumulation of long-chain acyl-CoA esters which have been shown to(More)