{"id":"W85308470","doi":"10.1007/8904_2015_413","title":"Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy","year":2015,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Medicine; Cerebrospinal fluid; Endocrinology; Internal medicine; Encephalopathy; Missense mutation; Inborn error of metabolism; Epilepsy; Pyridoxine; Chemistry; Biochemistry; Mutation","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":[0.0002119219,0.001260013,0.0006793533,0.001295438,0.001002447,0.0006131027,0.0007283401,0.001623605,0.001124281],"category_scores_gemma":[0.002471344,0.0004626636,0.0003561102,0.0006037206,0.001161783,0.0006591172,0.000611019,0.001071446,0.000322089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006566694,"about_ca_system_score_gemma":0.000618063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002937226,"about_ca_topic_score_gemma":0.001435904,"domain_scores_codex":[0.9997799,0.00002345737,0.00004924452,0.00006460187,0.00003586344,0.00004692097],"domain_scores_gemma":[0.9992356,0.0003017548,0.000109133,0.00004157099,0.00006617455,0.000245741],"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":[0.0002360237,0.00005360263,0.01866077,0.0000396129,0.00001311814,0.973613,0.0004157908,0.0001586135,0.004366125,0.000225828,0.0001662783,0.002051259],"study_design_scores_gemma":[0.00003645949,0.0003081562,0.0400156,0.0000319422,0.00008392573,0.9499718,0.0006039737,0.001047605,0.006544745,0.0005864316,0.0007349266,0.00003444772],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953055,0.0005863029,0.0006252541,0.0005966373,0.00007146594,0.00002014137,0.0001374145,0.00005013461,0.002607212],"genre_scores_gemma":[0.9989871,0.0002165328,0.0002272304,0.0001066897,0.00003561953,0.000005018976,0.00005323258,0.000009255623,0.00035933],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002937226,"threshold_uncertainty_score":0.005840242,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01282251784904082,"score_gpt":0.2235068047656125,"score_spread":0.2106842869165717,"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."}}