{"id":"W3193365158","doi":"10.3390/ijns7030055","title":"Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?","year":2021,"lang":"en","type":"article","venue":"International Journal of Neonatal Screening","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Izaak Walton Killam Health Centre","funders":"","keywords":"Newborn screening; Medicine; Carnitine; Decompensation; Pediatrics; Biotinidase deficiency; Disease; Internal medicine","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":[0.0003032393,0.0002190513,0.0002557402,0.0001445066,0.0001800437,0.00004447114,0.0005024952,0.0001122013,0.0001095545],"category_scores_gemma":[0.0002860993,0.000216945,0.0003130001,0.0001819322,0.0001139257,0.00003868596,0.0002413684,0.0002429548,7.124298e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001031187,"about_ca_system_score_gemma":0.0002575979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007319442,"about_ca_topic_score_gemma":0.00002330305,"domain_scores_codex":[0.9977885,0.00009904665,0.0006502207,0.0003241968,0.0008656736,0.0002722979],"domain_scores_gemma":[0.9984419,0.00003201727,0.000345601,0.0002063177,0.0007459729,0.0002281289],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001913683,0.0004350517,0.02202787,0.0000382987,0.0002881425,0.0002243902,0.0003689802,0.00191841,0.6279228,0.00003648334,0.001155403,0.3436705],"study_design_scores_gemma":[0.007193373,0.00222491,0.1294789,0.0003324866,0.0003725643,0.001078948,0.001205231,0.0005049865,0.5128417,0.0004015265,0.3432554,0.00110998],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6659489,0.008836408,0.3238078,0.0005432466,0.0003083331,0.00006725524,0.0003069269,0.000005412238,0.0001757647],"genre_scores_gemma":[0.9812073,0.0005643385,0.01685761,0.0004415875,0.0002798725,0.000004020056,0.0003567929,0.00002651565,0.0002619806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3425605,"threshold_uncertainty_score":0.8846759,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01364040202328992,"score_gpt":0.2548311404245318,"score_spread":0.2411907384012418,"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."}}