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Mona et al
Abbreviations UCD: Urea cycle disorders OTCD: Ornithine transcarbamylase deficiency LC: L-carnitine NCG: N -Carbamoyl-l-glutamic acid OTC: Ornithine transcarbamylase ARG: Arginase NAGS: N -Acetylglutamate synthase ASS: Argininosuccinate synthetaseS) CPS1: Carbamyl phosphate synthetase 1 ASL: Argininosuccinate lyase ORNT1: Mitochondrial ornithine transporter 1 CITRIN: Mitochondrial aspartate/glutamate carrier References Crosbie DC, Sugumar H, Simpson MA, Walker SP, Dewey HM, Reade MC
Every presumptive positive result from the patch is confirmed using LC-MS/MS
