{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004756109,0.0001165228,0.0005263953,0.0001800161,0.00004533701,0.0000356622,0.00004532096,0.00006440847,0.000135525],"category_scores_gemma":[0.0009003954,0.00008381468,0.0001469461,0.0003712776,0.0001140275,0.0001716674,0.00004285197,0.0001627717,0.000001187118],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001776399,"about_ca_system_score_gemma":0.0003766896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006615122,"about_ca_topic_score_gemma":0.000003855916,"domain_scores_codex":[0.9985492,0.0001191886,0.0006128607,0.0001725867,0.0003834786,0.0001627219],"domain_scores_gemma":[0.998194,0.0002802028,0.0002200896,0.0001806046,0.000559494,0.0005655771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002809347,0.004590804,0.8165198,0.0002882713,0.0009349863,0.001174012,0.0004330656,0.00001918326,0.01626045,0.001350217,0.0002965738,0.1553233],"study_design_scores_gemma":[0.004095591,0.001157099,0.9845214,0.0002084353,0.001404656,0.0001141802,0.0001642459,0.0001678223,0.003007473,0.000323383,0.004749945,0.0000857964],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9661188,0.03259989,0.00005147432,0.0008128598,0.00007948925,0.0001642016,0.00003667927,0.000004454673,0.0001321772],"genre_scores_gemma":[0.9664242,0.02982197,0.003012423,0.0001365617,0.0001627852,0.00001049664,0.000009363446,0.00001422482,0.0004079735],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1680015,"threshold_uncertainty_score":0.3417864,"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."}}