{"id":"W2999384365","doi":"10.24953/turkjped.2019.02.021","title":"An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment","year":2019,"lang":"en","type":"article","venue":"The Turkish Journal of Pediatrics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Nutrition, Metabolism and Diabetes","funders":"","keywords":"Medicine; Methionine synthase; Cobalamin; Hypotonia; Megaloblastic anemia; Failure to thrive; Microcephaly; Internal medicine; Methylmalonic acid; Inborn error of metabolism; Macrocytic anemia; Homocysteine; Cerebral atrophy; Endocrinology; Pediatrics; Methionine; Atrophy; Vitamin B12; Biochemistry; Biology","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":[0.0006140545,0.0001520234,0.0003977574,0.0001869965,0.00006836864,0.0000380896,0.0001359897,0.00006493095,0.00003884975],"category_scores_gemma":[0.00009183452,0.00007817679,0.0000511824,0.0003221652,0.0001212666,0.0002703005,0.00002864707,0.0002396363,0.000001089772],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003730682,"about_ca_system_score_gemma":0.0001841902,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001713955,"about_ca_topic_score_gemma":0.00009417965,"domain_scores_codex":[0.9986679,0.00009479593,0.0003678137,0.0001650379,0.0004927168,0.0002117436],"domain_scores_gemma":[0.9986849,0.0002319084,0.0003028637,0.0002821046,0.000274198,0.0002239696],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007572784,0.0005072104,0.9844258,0.00008055138,0.0000387239,0.000125156,0.001061958,0.00001176586,0.0005726363,0.00003207725,0.00003976179,0.01234713],"study_design_scores_gemma":[0.004211646,0.02326315,0.9682121,0.00007942856,0.0006709077,0.0006488526,0.001552451,0.0002138038,0.0006482824,0.00005960733,0.0002672074,0.0001725869],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884211,0.01076033,0.00002177598,0.0003437735,0.00003397668,0.0003184139,0.00002158609,0.000005692592,0.00007338079],"genre_scores_gemma":[0.987739,0.01144767,0.0005640751,0.00003476237,0.0001296369,0.000004112884,0.000004570308,0.00001710357,0.00005909943],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02275594,"threshold_uncertainty_score":0.3187957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01963109652722798,"score_gpt":0.2938409251389166,"score_spread":0.2742098286116886,"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."}}