{"id":"W3123179085","doi":"10.20944/preprints201704.0051.v1","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":"preprint","venue":"Preprints.org","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Carnitine; Newborn screening; Medicine; Population; Beta oxidation; Urine; Internal medicine; Endocrinology; Genetic testing; Physiology; 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":[0.0005432009,0.001038062,0.000666159,0.002129958,0.001254266,0.001126936,0.001006719,0.002645421,0.001331145],"category_scores_gemma":[0.004726684,0.0005573943,0.0005269905,0.0005382326,0.001081281,0.000908862,0.0008434806,0.001482654,0.0005987421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008736015,"about_ca_system_score_gemma":0.0007051995,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00434117,"about_ca_topic_score_gemma":0.00311971,"domain_scores_codex":[0.9993285,0.0001085908,0.00008234168,0.0001691004,0.0001294571,0.0001820001],"domain_scores_gemma":[0.9983687,0.0006201613,0.0002353834,0.00009227959,0.0001920665,0.0004914034],"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":[0.0001397935,0.00004515862,0.06049693,0.00002677898,0.000007572082,0.9329348,0.0003291955,0.000145074,0.002683908,0.000159961,0.0003599877,0.002670874],"study_design_scores_gemma":[0.00001551577,0.0001745341,0.02115163,0.00005472676,0.0000296879,0.9729881,0.0003320071,0.001359452,0.002979213,0.0002736638,0.0006212486,0.00002030097],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924939,0.00093894,0.001212682,0.002081435,0.0001036732,0.00004434906,0.0001208512,0.00007190906,0.002932259],"genre_scores_gemma":[0.9974192,0.0004354246,0.00134291,0.0002741591,0.0001364853,0.000005129963,0.00006023183,0.00002126978,0.0003051302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00434117,"threshold_uncertainty_score":0.008631825,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08323559580772784,"score_gpt":0.3310402389968488,"score_spread":0.2478046431891209,"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."}}