Browsing by Subject "Inborn errors of metabolism"
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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
(Springer Nature, 2011)Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in ... -
Non-enzymatic formation of N-acylated amino acid conjugates in urine
(North-West University, 2018)Comprehensive metabolic profiling is routinely utilised for the diagnosis of inborn errors of metabolism (IEMs). Observed disease-specific constituents are mostly due to induced secondary pathways, resulting in the build-up ...