{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005606271,0.0009817119,0.0005730366,0.001993172,0.001178825,0.0008955802,0.001046375,0.00235027,0.0009788488],"category_scores_gemma":[0.00550894,0.0005493386,0.0004599221,0.0004917861,0.001036341,0.0009095953,0.0007481067,0.001302727,0.0003976302],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000778169,"about_ca_system_score_gemma":0.000715181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004091851,"about_ca_topic_score_gemma":0.003448176,"domain_scores_codex":[0.999339,0.0001308627,0.00008752081,0.0001380945,0.0001202418,0.0001841617],"domain_scores_gemma":[0.9983027,0.0006956476,0.000258742,0.00008162934,0.0001612958,0.0005000299],"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":[0.0001097383,0.00004495322,0.06772705,0.00002037019,0.000006322403,0.9269713,0.0002733222,0.0001212074,0.002143349,0.0001250809,0.0002417695,0.002215546],"study_design_scores_gemma":[0.00001473189,0.0001936509,0.02475297,0.00004384487,0.00002611874,0.9705043,0.0003364756,0.001411154,0.002066028,0.0002148434,0.0004192708,0.00001661086],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942504,0.0007365441,0.000927972,0.001627311,0.00007044187,0.00003736283,0.00006782254,0.00004606251,0.002236088],"genre_scores_gemma":[0.9981031,0.000338642,0.00100437,0.0002251958,0.00009219409,0.000005479351,0.000036174,0.00001158047,0.000183278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004091851,"threshold_uncertainty_score":0.008136094,"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."}}