{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008969312,0.0007674441,0.0005953097,0.001376963,0.0003592284,0.0009333387,0.0004723546,0.0008333217,0.0005525274],"category_scores_gemma":[0.004060174,0.0002472209,0.0002926496,0.0007038038,0.0005831007,0.0003269416,0.0003169139,0.0005904169,0.0001452401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005029634,"about_ca_system_score_gemma":0.0004928412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003328082,"about_ca_topic_score_gemma":0.001943663,"domain_scores_codex":[0.9992744,0.0002133251,0.00009316285,0.0001263817,0.0002209241,0.00007179561],"domain_scores_gemma":[0.9984382,0.0006407568,0.000515729,0.00005290369,0.000155895,0.0001964668],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004082406,0.00004009641,0.9449453,0.00007289293,0.00005674017,0.004474921,0.0001200375,0.0001956025,0.03190473,0.0001206351,0.0002143908,0.0174465],"study_design_scores_gemma":[0.0000119415,0.0004512007,0.9437006,0.0001104961,0.0001904031,0.02530928,0.0004196442,0.003204292,0.0242398,0.0002613848,0.002079524,0.00002149547],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9866862,0.01020656,0.001094231,0.0006410262,0.00006048685,0.0000116059,0.0001336383,0.00006090065,0.001105384],"genre_scores_gemma":[0.9975098,0.00119994,0.0009399032,0.000139179,0.00004446659,0.000003683094,0.00003714568,0.000006240764,0.0001195002],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003328082,"threshold_uncertainty_score":0.006617427,"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."}}