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Urine organic acids were analyzed as trimethylsilyl (TMS) derivatives by gas chromatography–mass spectrometry. Urine organic acid profiles: (A) normal control; (B) patient with HSD10 deficiency; (C) patient with HSD10 deficiency under a low protein dietary regimen. 2MHBA, 2-methyl-3-hydroxybutyrc acid; EHA, 2-ethylhydracrylic acid; TG, tiglylglycine; IS, internal standard (reproduced from Figure 13.2 of Ref. [27]).
