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Clinical data in patients with late-onset OTCD
Patient No./Age (y)/SexOTC MutationClinical ManifestationsTherapyOutcomeDay of MR ImagingNH3 Level at MR ImagingMaximum NH3 Level
1/2.5/MArg40HisObtunded, vomiting, ataxiaMedicationImproved, hospitalized 10 dDay 7165235
2/7/FDeletion involving exons 9 and 10Lethargy, ataxia, seizureMedicationImproved, hospitalized 7 dDay 2195293
3/62/MPro225ThrVomiting, coma, seizureMedication, hemodialysisDied after 5 dDay 101832050