{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003170076,0.001515926,0.0009930048,0.001571435,0.002495714,0.001013579,0.0006305568,0.002796133,0.001848634],"category_scores_gemma":[0.00278069,0.0006249734,0.0005308578,0.001095874,0.001140942,0.0008163168,0.0009330448,0.002577864,0.0004871612],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008507092,"about_ca_system_score_gemma":0.0009574919,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00439503,"about_ca_topic_score_gemma":0.00436605,"domain_scores_codex":[0.9995344,0.00004040432,0.0000624453,0.0001384467,0.00008065447,0.0001437028],"domain_scores_gemma":[0.9988274,0.0004060448,0.0001631417,0.0000560163,0.00008727127,0.0004601683],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003379154,0.00004489495,0.008451553,0.0000188483,0.00000377163,0.9868367,0.0003265067,0.00004625977,0.001891441,0.0002628767,0.000269634,0.001813889],"study_design_scores_gemma":[0.000007645468,0.0001198257,0.005251823,0.00001293097,0.00001034874,0.9924143,0.0001268421,0.0001302139,0.001113696,0.0001801733,0.0006227057,0.000009446693],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9795307,0.001558876,0.002458611,0.004164049,0.0003411562,0.0001156025,0.0003431352,0.0002041634,0.01128365],"genre_scores_gemma":[0.9947524,0.0008442783,0.001510287,0.000829388,0.0002001853,0.00001961696,0.00009917939,0.00003457492,0.001710073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00439503,"threshold_uncertainty_score":0.008738935,"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."}}