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Approximately one year later, he experienced a severe worsening of his previously very mild neuropathy, and lab evaluation yielded a serum B12 of 220 pmol/l (which is normal, remember!?), but an elevated serum MMA of 1300 nmol/l, supporting the existence of true B12 deficiency

CdLS can also stem from mutations on the SMC3 gene of chromosome 10 [389] and SMC1L1 gene [390]

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another advantage of an on-line DAD detector is the possibility of detection of poorly ionizing compounds that cannot be detected by an MS detector, and simultaneous quantitative and qualitative analysis when the MS detector works in dynamic range modewhich results in reduction of time and cost of analysis), and a high-resolution mass spectrometer (Q-TOF, Orbitrap), especially MS/MS enabling ion fragmentation