{"id":"W4385620563","doi":"10.1002/jimd.12669","title":"Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1","year":2023,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Tyrosinemia; Biomarker; Human genetics; Newborn screening; Medicine; Isomerase; Metabolic disease; Internal medicine; Biochemistry; Biology; Pediatrics; Enzyme; Gene; Tyrosine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004375973,0.0001969725,0.000355692,0.0002442557,0.00009443829,0.00002870842,0.0003246376,0.00009000589,0.00003170875],"category_scores_gemma":[0.0005150068,0.0001758057,0.0003968785,0.000623956,0.00009391391,0.00001418156,0.00006005571,0.00005679654,0.000003161234],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002277124,"about_ca_system_score_gemma":0.0002849814,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002745085,"about_ca_topic_score_gemma":0.000001774402,"domain_scores_codex":[0.9985933,0.00004784,0.0005907843,0.000262885,0.0001666398,0.0003385794],"domain_scores_gemma":[0.9981655,0.000032737,0.0004354561,0.0003802424,0.000699871,0.0002861166],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002100021,0.0002618775,0.009531274,0.0002237788,0.0003182698,0.000001989435,0.00009614741,0.0003611328,0.8647878,0.0002699183,0.04187983,0.08016795],"study_design_scores_gemma":[0.005157916,0.0004013126,0.4081013,0.00008670062,0.0009453365,0.0000178801,0.0002845531,0.0006126739,0.04335129,0.001062409,0.5394969,0.0004816826],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9167674,0.03425287,0.04520664,0.001575919,0.0003746684,0.0006863263,0.001045581,0.00001424802,0.00007631815],"genre_scores_gemma":[0.9496844,0.007537108,0.03904456,0.001354157,0.0005025201,0.0001441351,0.0004330136,0.0001066769,0.001193471],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8214365,"threshold_uncertainty_score":0.7169147,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03987612932520185,"score_gpt":0.3221373106989335,"score_spread":0.2822611813737317,"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."}}