{"id":"W2092631338","doi":"10.1542/peds.2011-0123","title":"Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy","year":2012,"lang":"en","type":"article","venue":"PEDIATRICS","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital; University of Toronto","funders":"","keywords":"Medicine; Lactic acidosis; Hypoglycemia; Epilepsy; Missense mutation; Internal medicine; Compound heterozygosity; Endocrinology; Pyridoxine; Gene mutation; Encephalopathy; Anesthesia; Pediatrics; Mutation; Genetics; 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":[0.0001804007,0.001063103,0.0005629041,0.000608578,0.0006202284,0.0003572559,0.0003949825,0.0008118671,0.0005749757],"category_scores_gemma":[0.001328074,0.0004458053,0.0003782171,0.0005247822,0.000531907,0.0004570403,0.0008896137,0.0008440728,0.0001721344],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000478622,"about_ca_system_score_gemma":0.0003117494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001592846,"about_ca_topic_score_gemma":0.001880978,"domain_scores_codex":[0.9997908,0.00002982947,0.00003570927,0.00004770342,0.00003793384,0.00005796363],"domain_scores_gemma":[0.9995473,0.0001146494,0.000137044,0.00002920004,0.00002688782,0.0001448227],"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":[0.00008124406,0.00001690928,0.02068295,0.00004271001,0.0000117911,0.9727835,0.000197879,0.00009902533,0.002887653,0.0001285657,0.0001641216,0.002903679],"study_design_scores_gemma":[0.00000789339,0.00006586328,0.01756897,0.0000111359,0.0000108935,0.9804379,0.00009255071,0.0001208048,0.001203384,0.0001001338,0.0003738323,0.000006620217],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916957,0.002304959,0.001947037,0.000389963,0.00009235441,0.00004114815,0.0001672793,0.0001007274,0.003260872],"genre_scores_gemma":[0.997889,0.001102048,0.0003395115,0.0001627786,0.00006048958,0.00001004492,0.0000727607,0.000008556172,0.0003549099],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001592846,"threshold_uncertainty_score":0.003472686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006334130094008145,"score_gpt":0.2279256055269093,"score_spread":0.2215914754329011,"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."}}