{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002215988,0.0004433945,0.0003408169,0.001013356,0.001097649,0.0005690907,0.000451458,0.0004171223,0.001877323],"category_scores_gemma":[0.001112832,0.0002309163,0.0002440827,0.0005694928,0.0005907175,0.0002512237,0.000390449,0.0003053469,0.0004152449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000907506,"about_ca_system_score_gemma":0.001052128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07168588,"about_ca_topic_score_gemma":0.05467877,"domain_scores_codex":[0.9996806,0.00002996511,0.00002508329,0.0001124198,0.00005843911,0.00009360852],"domain_scores_gemma":[0.999181,0.0001065618,0.0002312327,0.00004914837,0.0001256875,0.000306447],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007334373,0.00002761948,0.9933313,0.000006305328,0.00001435233,0.003947898,0.000181937,0.00001681055,0.001086586,0.00001691666,0.0001705534,0.001126447],"study_design_scores_gemma":[0.00001082391,0.0001965041,0.9810448,0.00001021552,0.00001832713,0.01742276,0.0004815961,0.0001494232,0.0001716881,0.00002351944,0.0004610141,0.00000937357],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990749,0.0001481601,0.00006971268,0.00002887655,0.000004282589,0.0000123987,0.0002073239,0.000006870303,0.0004474179],"genre_scores_gemma":[0.9994752,0.00008226241,0.00005705655,0.00004707491,0.0000114483,0.000005185982,0.0001987441,0.000002961177,0.0001201584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07168588,"threshold_uncertainty_score":0.1425372,"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."}}