{"id":"W2609369415","doi":"10.3390/ijns3020010","title":"Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency","year":2017,"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":"","funders":"National Institute of General Medical Sciences","keywords":"Carnitine; Newborn screening; Beta oxidation; Carnitine O-palmitoyltransferase; Internal medicine; Population; Endocrinology; Medicine; Metabolic disorder; Biology; Pediatrics; Metabolism","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005689136,0.0001483022,0.0003444123,0.0001788677,0.0000545611,0.00001469267,0.000519786,0.00009400123,0.00001701579],"category_scores_gemma":[0.0009103768,0.000148039,0.000205954,0.00007137668,0.0002197893,0.00003210108,0.00009096647,0.0001083306,4.060286e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000221848,"about_ca_system_score_gemma":0.000115559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008280302,"about_ca_topic_score_gemma":0.0004851548,"domain_scores_codex":[0.9981883,0.00006881401,0.001044735,0.000171999,0.000356069,0.000170048],"domain_scores_gemma":[0.9974676,0.0001155631,0.001296966,0.0002232231,0.0008330155,0.0000636287],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001242241,0.0001303743,0.4213708,0.0001523063,0.0001513412,0.00004963702,0.0003356774,0.004336116,0.1041085,0.00002768359,0.000005261834,0.4680901],"study_design_scores_gemma":[0.006043367,0.0008712907,0.7819656,0.0005208286,0.0001119887,0.0005457011,0.001456712,0.009051538,0.1986306,0.0002029973,0.000336427,0.0002630542],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.642047,0.0007586129,0.3567361,0.00004539919,0.00007700601,0.000127049,0.0001363429,8.422591e-7,0.00007171295],"genre_scores_gemma":[0.9380642,0.00008559144,0.06171868,0.00001071057,0.00006706716,0.00000257186,0.00003481867,0.0000122798,0.000004110161],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.467827,"threshold_uncertainty_score":0.6036856,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02684779185776382,"score_gpt":0.2951420300508631,"score_spread":0.2682942381930993,"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."}}