{"id":"W2021276903","doi":"10.1007/s10545-014-9687-6","title":"Clinical presentation and outcome in a series of 88 patients with the cblC defect","year":2014,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":169,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Fondazione Pierfranco e Luisa Mariani; Ministero della Salute","keywords":"Pediatrics; Medicine; Lethargy; Newborn screening; Retrospective cohort study; Cohort; Prospective cohort study; Hydroxocobalamin; Folinic acid; Internal medicine; Vitamin B12; Chemotherapy; Cyanocobalamin","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":[0.0002827295,0.0006152639,0.0006183821,0.0009852274,0.0007733878,0.0005245191,0.0004033154,0.000675489,0.001457222],"category_scores_gemma":[0.001627798,0.0003448751,0.0003344453,0.0006886507,0.0005750418,0.0003027158,0.000590135,0.0005393187,0.0004082032],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003902114,"about_ca_system_score_gemma":0.0003464529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001520518,"about_ca_topic_score_gemma":0.001016343,"domain_scores_codex":[0.9995916,0.00006256441,0.00005662841,0.000118863,0.0000696851,0.0001006788],"domain_scores_gemma":[0.9990368,0.0001671352,0.0003428535,0.00008425441,0.0000874357,0.0002815472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000212075,0.0000889348,0.981978,0.0000179997,0.00002589429,0.0147431,0.0001797934,0.00006329124,0.0006012304,0.00001437181,0.0001780467,0.001897268],"study_design_scores_gemma":[0.00005032134,0.0009049044,0.9112993,0.00002255153,0.00004239309,0.08616005,0.0004289009,0.0002131971,0.0002859135,0.00004060506,0.0005327594,0.0000191138],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999298,0.0002352765,0.00006694708,0.00002317156,0.000006663805,0.00001278399,0.0001101007,0.000005363666,0.0002417133],"genre_scores_gemma":[0.9994802,0.00008547636,0.00006741287,0.00001776962,0.0000154597,0.00001408839,0.0002250546,0.000003495164,0.00009097895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001520518,"threshold_uncertainty_score":0.004874885,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02619391259640081,"score_gpt":0.347717038693921,"score_spread":0.3215231260975202,"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."}}