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- W2019872382 abstract "Medium chain acyl-CoA dehydrogenase deficiency, a defect of mitochondrial beta-oxidation, is one of the most frequently occurring among inborn errors of metabolism. We describe a rapid and sensitive gas chromatographic/mass spectrometric method allowing reliable assessment of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts. We investigated MCAD activity in three presumed medium chain acyl-CoA dehydrogenase deficient (MCADD) patients and 10 control subjects. The medium chain acyl-CoA dehydrogenase activity determined in three patients was 1.0 +/- 0.4 nmol.min-1.mg-1 protein (mean +/- SD; range: 0.6-1.4) and in controls it was 2.8 +/- 1.0 nmol.min-1.mg-1 protein (mean +/- SD; range: 1.6-4.4)." @default.
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- W2019872382 date "1991-06-01" @default.
- W2019872382 modified "2023-10-18" @default.
- W2019872382 title "Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry" @default.
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- W2019872382 doi "https://doi.org/10.1016/0009-8981(91)90109-p" @default.
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