{"id":"W106687814","doi":"10.1007/8904_2014_340","title":"Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism","year":2014,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; SickKids Foundation; McGill University; Hospital for Sick Children","funders":"","keywords":"Homocystinuria; Cobalamin; Methylmalonic aciduria; Methylmalonic acid; Methylcobalamin; Adenosylcobalamin; Homocysteine; Vitamin B12; Biochemistry; Methylmalonic acidemia; Chemistry; Medicine; Internal medicine; Methionine; Amino acid","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":[0.0003380982,0.00204935,0.001051791,0.002204939,0.001940397,0.001056695,0.00121194,0.003784477,0.001889145],"category_scores_gemma":[0.002754371,0.0008172122,0.000812449,0.001653737,0.001832099,0.001114493,0.001113799,0.002327984,0.0004862375],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001086826,"about_ca_system_score_gemma":0.0008050293,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00649394,"about_ca_topic_score_gemma":0.00325306,"domain_scores_codex":[0.9996272,0.00003934259,0.00005049883,0.0001121669,0.00005074296,0.0001199578],"domain_scores_gemma":[0.9987621,0.0003712511,0.0001309216,0.00005903197,0.00008578663,0.000590788],"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":[0.0001148996,0.00006643236,0.009397032,0.00001766542,0.000006699858,0.9882803,0.0001418313,0.00009598235,0.001079112,0.0001184422,0.0001425533,0.0005391351],"study_design_scores_gemma":[0.00003309489,0.0002391048,0.01526813,0.00001210876,0.00003158801,0.9822804,0.0001834282,0.0005227601,0.0008624831,0.0002292347,0.0003158191,0.00002183198],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862432,0.001386702,0.001173018,0.002408812,0.0001525837,0.000135241,0.0003502841,0.0001100558,0.008040014],"genre_scores_gemma":[0.997794,0.0003649447,0.0004373719,0.0004121753,0.000161355,0.00001163893,0.00008436874,0.0000139457,0.0007202642],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00649394,"threshold_uncertainty_score":0.01291227,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01538873809210012,"score_gpt":0.3288954758173657,"score_spread":0.3135067377252655,"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."}}