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. 1987 May 29;165(1):39-44.
doi: 10.1016/0009-8981(87)90216-6.

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency

A K Bhuiyan, N J Watmough, D M Turnbull, A Aynsley-Green, J V Leonard, K Bartlett

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency

A K Bhuiyan et al. Clin Chim Acta. .

Abstract

We describe a simple inexpensive method for the detection of octanoyl-carnitine in urine by reverse-phase high performance thin-layer chromatography of the p-bromophenacyl derivative. This method provides a rapid and reliable means for the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency which is suitable for routine laboratory use.

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