{"id":"W2151953480","doi":"10.1542/peds.2013-0105","title":"A Patient With an Inborn Error of Vitamin B12 Metabolism (<i>cblF</i>) Detected by Newborn Screening","year":2013,"lang":"en","type":"article","venue":"PEDIATRICS","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta Hospital; Alberta Hospital Edmonton; McGill University; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; McGill University Health Centre","keywords":"Hydroxocobalamin; Cobalamin; Adenosylcobalamin; Methylcobalamin; Medicine; Vitamin B12; Newborn screening; Cyanocobalamin; Mutase; Methionine synthase; Methylmalonic acidemia; Inborn error of metabolism; Internal medicine; Metabolism; Endocrinology; Methionine; Pediatrics; Biochemistry; Enzyme; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001015981,0.0002191083,0.0002277066,0.00007890107,0.00005614347,0.00002821271,0.0002215888,0.0001466162,0.00006209686],"category_scores_gemma":[0.00008093299,0.0001855933,0.00006560002,0.0002839492,0.00007011002,0.00001208417,0.00009438862,0.00009445217,0.00001009762],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001529528,"about_ca_system_score_gemma":0.0000714897,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002224774,"about_ca_topic_score_gemma":0.00004539369,"domain_scores_codex":[0.9986354,0.00008018754,0.0002980324,0.0003908367,0.0002645726,0.0003309895],"domain_scores_gemma":[0.9989432,0.0000136952,0.0001815428,0.0004584701,0.0002158253,0.0001872669],"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":[0.0004800408,0.000878974,0.03874844,0.0001579929,0.0002102712,0.00000596247,0.0008228146,0.0004730026,0.5345917,0.00003923296,0.04232775,0.3812639],"study_design_scores_gemma":[0.008919911,0.004312558,0.179084,0.000028297,0.001030352,0.00004448617,0.002909702,0.001298602,0.3557931,0.0002726333,0.4433914,0.002914931],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821752,0.002931875,0.01396248,0.00005005767,0.0001318241,0.0003455664,0.00008576626,0.0000178808,0.0002993248],"genre_scores_gemma":[0.9638473,0.0004747309,0.03456083,0.0002537081,0.0002280658,0.00007004706,0.0002689601,0.00005029859,0.0002460293],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4010637,"threshold_uncertainty_score":0.7568274,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004847433540764491,"score_gpt":0.2051351810925683,"score_spread":0.2002877475518038,"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."}}