{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006631536,0.0005099192,0.0005137569,0.0005617092,0.000407079,0.000498058,0.0005052299,0.001725658,0.0009171291],"category_scores_gemma":[0.003366034,0.0001728446,0.000261944,0.0001812739,0.0009267543,0.0009192668,0.0003876605,0.001416153,0.0003746036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004830033,"about_ca_system_score_gemma":0.0007230926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001311412,"about_ca_topic_score_gemma":0.001251917,"domain_scores_codex":[0.9996631,0.00009154222,0.00003887778,0.00005168526,0.00007480341,0.00008001026],"domain_scores_gemma":[0.9991695,0.0004277516,0.0001148267,0.00004898234,0.00009900539,0.0001400051],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000435423,0.0001235038,0.2023935,0.0003817545,0.00002961758,0.648524,0.001187449,0.0003033965,0.03503243,0.002401039,0.004292503,0.1048954],"study_design_scores_gemma":[0.00001920671,0.0005193875,0.03525181,0.0004483994,0.00006638233,0.9261334,0.001215488,0.001325401,0.02068129,0.00279654,0.01150228,0.00004034883],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8923891,0.03016726,0.023957,0.03630361,0.001356046,0.0001053163,0.00009624991,0.0005255135,0.01509993],"genre_scores_gemma":[0.9813401,0.007725903,0.005865431,0.003264017,0.0004607365,0.0000137713,0.00003195804,0.00003954854,0.001258531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001725658,"threshold_uncertainty_score":0.003507078,"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."}}