{"id":"W3201919109","doi":"10.1002/jimd.12448","title":"Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment","year":2021,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Homocysteine; Medicine; Pediatrics; Hypotonia; Folinic acid; Hyperhomocysteinemia; Macrocytic anemia; Methionine; Homocystinuria; Methionine synthase; Encephalopathy; Internal medicine; Anemia; Biology; Biochemistry","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":[0.0002140871,0.0003190193,0.0006192685,0.000398349,0.0003224344,0.0002709848,0.0002333841,0.00064981,0.0006617639],"category_scores_gemma":[0.001347807,0.00006453852,0.0002256789,0.0003382481,0.0002323877,0.0002235214,0.0002674043,0.0004596234,0.0001252083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003360292,"about_ca_system_score_gemma":0.0003282777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009268682,"about_ca_topic_score_gemma":0.00115943,"domain_scores_codex":[0.999791,0.00004437738,0.00004236785,0.00003146779,0.00003158692,0.000059308],"domain_scores_gemma":[0.9995406,0.0001329883,0.0001110784,0.00001726322,0.00004268836,0.00015555],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.00339694,0.0008622415,0.5408122,0.0004151447,0.0002652156,0.2565714,0.001052468,0.001441385,0.03629198,0.001158647,0.002073616,0.1556588],"study_design_scores_gemma":[0.0002657533,0.002340605,0.6824441,0.0002318437,0.0001483012,0.3024798,0.0006922544,0.001240253,0.00506287,0.001154327,0.00386915,0.0000707951],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857106,0.00516907,0.0006273111,0.0008098615,0.00003801651,0.00003945743,0.0001348796,0.00003605828,0.007434762],"genre_scores_gemma":[0.9986639,0.0005918992,0.0001733213,0.0001841024,0.00002862663,0.000009473511,0.00007348482,0.000004488244,0.0002707038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009268682,"threshold_uncertainty_score":0.002438128,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05935748762508365,"score_gpt":0.3797434914611744,"score_spread":0.3203860038360908,"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."}}