{"id":"W2806626431","doi":"10.1002/jimd.12032","title":"Combined malonic and methylmalonic aciduria due to <i>ACSF3</i> mutations: Benign clinical course in an unselected cohort","year":2019,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier de l'Université Laval; Montreal Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine; Université de Sherbrooke; Université Laval; Université de Montréal; McGill University; Centre Hospitalier de l’Université de Montréal","funders":"","keywords":"Methylmalonic acid; Methylmalonic aciduria; Newborn screening; Medicine; Cohort; Gastroenterology; Internal medicine; Urine; Creatinine; Pediatrics; Genotyping; Retrospective cohort study; Malonic acid; Cohort study; Genotype; Genetics; Biology; Biochemistry; Gene; Vitamin B12","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001171035,0.0002629345,0.0006358853,0.0002086291,0.00004362922,0.00006457544,0.0003501071,0.0001604611,0.00006740155],"category_scores_gemma":[0.0004612604,0.0002436779,0.0001941249,0.0004254651,0.00009736939,0.00002530674,0.0000820541,0.0002456658,0.00001499459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004406274,"about_ca_system_score_gemma":0.0005437091,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001125919,"about_ca_topic_score_gemma":0.00004435045,"domain_scores_codex":[0.9973786,0.0005499161,0.0009409133,0.0004437348,0.0003270915,0.0003597627],"domain_scores_gemma":[0.9979942,0.00004103732,0.0003359241,0.0005066011,0.0003601994,0.0007619838],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005430736,0.002251678,0.8948504,0.000073332,0.0006718515,0.0001318039,0.0002494891,0.001172323,0.07759338,0.000445608,0.002617329,0.0145121],"study_design_scores_gemma":[0.004542205,0.000672592,0.9755016,0.00003761099,0.0003268135,0.00003364882,0.0001507372,0.0001095918,0.0007973329,0.0002547901,0.01725406,0.0003190094],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875737,0.01065762,0.0001920555,0.0003663194,0.0005173935,0.00059443,0.00003348438,0.000007498799,0.00005751],"genre_scores_gemma":[0.9944364,0.001768138,0.001565602,0.001625124,0.0002467246,0.00002401913,0.0001211736,0.00004376022,0.0001690672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08065124,"threshold_uncertainty_score":0.9936896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008652707636210726,"score_gpt":0.3014046322369369,"score_spread":0.2927519246007261,"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."}}