{"id":"W4407889128","doi":"10.1017/cjn.2025.19","title":"New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man","year":2025,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Canadian Institutes of Health Research; Academic Medical Organization of Southwestern Ontario","keywords":"Medicine; Ornithine transcarbamylase deficiency; Pediatrics; Genetics; Biology; Urea cycle","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002905107,0.001850245,0.001108476,0.003306718,0.002459469,0.001055274,0.001214308,0.005083,0.003245048],"category_scores_gemma":[0.002126948,0.0009764703,0.001073831,0.001718228,0.001317527,0.001865942,0.0009210417,0.003288977,0.001133705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001213392,"about_ca_system_score_gemma":0.0009783118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008673993,"about_ca_topic_score_gemma":0.007986366,"domain_scores_codex":[0.9995708,0.00002877034,0.00004850203,0.0001371645,0.00008510878,0.0001297542],"domain_scores_gemma":[0.9986601,0.0003725634,0.0001420826,0.00005476308,0.0001075056,0.0006630003],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00008617152,0.00005729131,0.01237006,0.00002761522,0.00001177785,0.9846816,0.0001538158,0.00006290882,0.0008931588,0.000133806,0.0004837135,0.001038075],"study_design_scores_gemma":[0.00002870715,0.0002297206,0.0467455,0.00004640225,0.00004780774,0.9507172,0.0002866774,0.0002861732,0.0003647097,0.0002487388,0.0009711111,0.00002727426],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9605687,0.006460765,0.002330327,0.008448305,0.001253432,0.0001657047,0.000897076,0.000198111,0.01967759],"genre_scores_gemma":[0.9918287,0.002197372,0.0006609678,0.001810653,0.0009234412,0.00001618692,0.0002770067,0.00002711059,0.00225847],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008673993,"threshold_uncertainty_score":0.01724702,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0137430540425582,"score_gpt":0.2515106430851942,"score_spread":0.237767589042636,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}