{"id":"W4394909179","doi":"10.1186/s13023-024-03167-0","title":"The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"Recordati Rare Diseases","keywords":"Hyperammonemia; Urea cycle; Orotic acid; Medicine; Pediatrics; Ornithine transcarbamylase deficiency; Homocystinuria; Internal medicine; Biology; Arginine; Biochemistry; Methionine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.000332774,0.0001454286,0.0001128077,0.0004017285,0.0004298818,0.000609666,0.0003129218,0.0002638142,0.0006040346],"category_scores_gemma":[0.003397828,0.00006754765,0.0001109274,0.0006336358,0.000473585,0.0003043526,0.000323115,0.0002562753,0.00008853048],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001168326,"about_ca_system_score_gemma":0.001338603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02385229,"about_ca_topic_score_gemma":0.03961705,"domain_scores_codex":[0.9997224,0.00005701099,0.00005214532,0.0000238835,0.00009359681,0.00005086631],"domain_scores_gemma":[0.9989725,0.0002471608,0.0004246679,0.00002993561,0.0001937707,0.0001319178],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001015589,0.00003676108,0.9714321,0.00005737448,0.00002075087,0.01175086,0.0004852009,0.0001325121,0.001078086,0.00006577357,0.0003436226,0.01449535],"study_design_scores_gemma":[0.00002067356,0.0003060342,0.8879011,0.0002167578,0.00007708083,0.1019248,0.002689409,0.000742364,0.002380101,0.0001825084,0.0035408,0.00001841393],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99511,0.00203649,0.0001530422,0.0002490354,0.000009303939,0.00001375235,0.00004812128,0.000007299855,0.002373023],"genre_scores_gemma":[0.9989322,0.0006836703,0.0001880604,0.00005885156,0.000008767556,0.000002151401,0.00004611661,0.000002216737,0.00007790337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02385229,"threshold_uncertainty_score":0.04742688,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004374257697927358,"score_gpt":0.2294110472768867,"score_spread":0.2250367895789593,"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."}}