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Targeted LCMS analysis Samples were analysed using an Agilent Infinity II HPLC and an Agilent G6545A quadrupole time-of-flight mass spectrometer

& Baier, L

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Total and free carnitine levels are often reduced with higher-than-normal levels of acylcarnitine so that the acylcarnitine to free carnitine ratio is increased ( CPT II gene, which cause either truncation of the protein or degradation of its mRNA, are associated with LNF of CPT II deficiency ( Alternatively, the diagnosis can be made by detecting decreased CPT II enzyme activity in cultured fibroblasts ( CPT II c.63dup (p.Ser 22Glnfs*37), inherited from both parents