{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002817078,0.001197541,0.0009115748,0.0009167421,0.0009536153,0.0005312893,0.0004819113,0.002984334,0.0008338808],"category_scores_gemma":[0.002306571,0.0006701237,0.0004148599,0.0004625632,0.0006873502,0.0008741941,0.0006853199,0.002275898,0.0002514329],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004879911,"about_ca_system_score_gemma":0.0005631141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001674012,"about_ca_topic_score_gemma":0.001753177,"domain_scores_codex":[0.9996234,0.00008216107,0.00004989374,0.00005192931,0.00006986765,0.0001227062],"domain_scores_gemma":[0.9993524,0.0002003656,0.0001571864,0.00002844755,0.00004159028,0.0002201253],"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":[0.00003323701,0.0000246241,0.006213176,0.00002932043,0.000004656678,0.9907016,0.0001268245,0.00002843091,0.001231404,0.00009702801,0.0001789651,0.001330807],"study_design_scores_gemma":[0.000008754726,0.00008199342,0.007999816,0.00003277478,0.00001461205,0.9905399,0.000112552,0.0001306951,0.0004760748,0.00008868723,0.0005053024,0.000008905222],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9813592,0.007509419,0.002527817,0.003779228,0.0003167585,0.00008035118,0.0001046911,0.0001440762,0.004178376],"genre_scores_gemma":[0.9933679,0.003403599,0.001457939,0.0006632238,0.0003665974,0.00002209858,0.00006038453,0.00001809858,0.000640122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002984334,"threshold_uncertainty_score":0.003540695,"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."}}