{"id":"W4391338347","doi":"10.22541/au.170665855.54975829/v1","title":"VERY EARLY DIAGNOSIS AND MANAGEMENT OF CONGENITAL ERYTHROPOIETIC PORPHYRIA AT BIRTH","year":2024,"lang":"en","type":"preprint","venue":"","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université Laval","funders":"","keywords":"Porphyria; Hemolysis; Medicine; Acute intermittent porphyria; Photosensitivity; Heme; Splenectomy; Pediatrics; Internal medicine; Enzyme; Biology; Biochemistry; Spleen","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001061186,0.0002956549,0.0002925036,0.00007485849,0.00003404199,0.0000400975,0.0002123965,0.0002755714,0.0002245788],"category_scores_gemma":[0.000007690384,0.000270162,0.0001888634,0.00005882279,0.0001930396,0.000001441451,0.002911399,0.000139622,0.00003757087],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009231791,"about_ca_system_score_gemma":0.00003852303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001305841,"about_ca_topic_score_gemma":0.00004797407,"domain_scores_codex":[0.9986404,0.00003218166,0.0002859878,0.0006429006,0.0001702195,0.0002283566],"domain_scores_gemma":[0.999236,0.000007260987,0.00009241211,0.0005272544,0.00004224505,0.00009476535],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002437666,0.002756374,0.2641465,0.04077994,0.02386382,0.0008932578,0.001785395,0.0004312983,0.1284364,0.03974,0.4032671,0.0914623],"study_design_scores_gemma":[0.006670481,0.001579974,0.3154183,0.001310967,0.004324328,0.00008940601,0.001462421,0.0001296929,0.2162585,0.03289669,0.4143868,0.005472424],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9531257,0.03115447,0.00005671543,0.0001211078,0.0006160896,0.00039253,0.0002008065,0.00002371367,0.01430884],"genre_scores_gemma":[0.9638184,0.02809253,0.0007100277,0.00008568652,0.0001081252,0.0001353293,0.0001826912,0.00004312307,0.006824115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08782212,"threshold_uncertainty_score":0.9999751,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00889683281586687,"score_gpt":0.2410180610010188,"score_spread":0.2321212281851519,"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."}}