{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006674558,0.00009661858,0.0002999207,0.0000733769,0.00002202586,0.00001221426,0.0000404111,0.00008310331,0.00001462584],"category_scores_gemma":[0.000455014,0.00005418124,0.00005027747,0.0002421454,0.0002090368,0.0000357162,0.0000435735,0.0001996137,0.000001483516],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001093592,"about_ca_system_score_gemma":0.00007883319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001653181,"about_ca_topic_score_gemma":0.00002230404,"domain_scores_codex":[0.9985845,0.0001254389,0.0004823287,0.0002650999,0.0003808279,0.0001617774],"domain_scores_gemma":[0.9990692,0.0001081938,0.0002069148,0.000389398,0.0001382982,0.00008798492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001328342,0.001811232,0.3918303,0.000581976,0.0004663166,0.005832125,0.001978419,0.00002551452,0.5296082,0.0002512518,0.01583326,0.05045298],"study_design_scores_gemma":[0.003628758,0.00194344,0.7797212,0.0004117022,0.0003527129,0.001731117,0.0007338458,0.001143904,0.1875316,0.0003214369,0.02216135,0.0003189764],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968567,0.0004810111,0.00004843561,0.0009177182,0.00004831471,0.0004938414,9.7239e-7,0.00001137867,0.001141588],"genre_scores_gemma":[0.9990829,0.00003111141,0.000504734,0.000171075,0.00003777662,0.00002975231,0.00001076535,0.00001386365,0.0001180255],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3878908,"threshold_uncertainty_score":0.2209447,"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."}}