{"id":"W2553803556","doi":"10.1136/jmedgenet-2016-104289","title":"Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency","year":2016,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier de l'Université Laval; Centre Hospitalier Universitaire de Sherbrooke; McGill University Health Centre; University of Calgary; Université Laval; Université de Montréal; Alberta Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Isomerase; Function (biology); Biology; Internal medicine; Endocrinology; Medicine; Genetics; Biochemistry; Enzyme","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"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":[0.0002356325,0.0007341204,0.000322637,0.001048808,0.0004122431,0.0002943854,0.0003009739,0.000786873,0.001124765],"category_scores_gemma":[0.001477728,0.0001973799,0.0001708283,0.000426638,0.0008052265,0.000210258,0.0005216179,0.0004116503,0.0001522005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004942269,"about_ca_system_score_gemma":0.000304889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002750867,"about_ca_topic_score_gemma":0.001681592,"domain_scores_codex":[0.9997413,0.00004435715,0.00003831586,0.00006731496,0.00005216481,0.00005656963],"domain_scores_gemma":[0.9996254,0.0001313012,0.0001002234,0.00001259318,0.00002115374,0.0001091881],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.00204878,0.0001152757,0.5210329,0.0001134501,0.00004725418,0.413809,0.001327083,0.000286203,0.05066644,0.0004007845,0.0002618568,0.009890983],"study_design_scores_gemma":[0.00007458438,0.0008262981,0.3940778,0.00002839789,0.00005580394,0.5929624,0.0005209136,0.0005537281,0.009800511,0.0002848514,0.0007955493,0.00001915924],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990688,0.000297388,0.000131557,0.00005211953,0.00000614872,0.000008314975,0.00003747551,0.000006270262,0.0003919217],"genre_scores_gemma":[0.9996636,0.00009771862,0.00009711272,0.00002174927,0.000008724313,0.000002676976,0.00002861353,0.000001774229,0.00007801351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002750867,"threshold_uncertainty_score":0.005469739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007426081034838646,"score_gpt":0.2354371950989274,"score_spread":0.2280111140640888,"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."}}