Genotype and octanoyl-CoA oxidation measured in lymphocytes of 65 subjects with suspected MCAD deficiencya.
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aActivity was given as % of the mean value of healthy controls (1.89±0.58 mU/mg).bNewborn screening octanoyl-carnitine results were given in µmol/L. The cut-off values were given bracketed.cData not available.dno HPLC-UV measurement performed.enovel mutation.
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2015-12-02
