{"id":"W4292432139","doi":"10.1007/s00431-022-04588-4","title":"Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre","year":2022,"lang":"en","type":"article","venue":"European Journal of Pediatrics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University College Dublin; Health Research Board; Health Service Executive; Wellcome Trust; Irish Research eLibrary; Children's Health Foundation; Canadian Institute for Theoretical Astrophysics","keywords":"Medicine; Inborn error of metabolism; Pediatrics; Endocrinology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005962749,0.0001311504,0.0002015401,0.00007924237,0.00009111021,0.00001131105,0.0004614772,0.00002444923,0.00005740281],"category_scores_gemma":[0.0005931307,0.0001256276,0.000165661,0.00018471,0.00004180182,0.000005846391,0.000304306,0.0001516392,0.000001170442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003230035,"about_ca_system_score_gemma":0.0001018486,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003243417,"about_ca_topic_score_gemma":4.731708e-7,"domain_scores_codex":[0.9985772,0.0002252021,0.0005014896,0.0002023311,0.0002708507,0.0002228937],"domain_scores_gemma":[0.9990094,0.00004913101,0.0004553345,0.0002001166,0.0001752936,0.0001107644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009839931,0.0007732349,0.1220057,0.000125848,0.0001831745,0.0001561218,0.005405734,0.0008361207,0.7876623,0.00007153296,0.05362998,0.02816622],"study_design_scores_gemma":[0.01028976,0.001364805,0.09106352,0.00002817623,0.0007437118,0.0001750338,0.01194376,0.0002480546,0.1478779,0.0002108665,0.7349039,0.001150561],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9835786,0.01026125,0.004988017,0.0000702388,0.0005451776,0.00009313848,0.0003131288,0.000003481786,0.000146933],"genre_scores_gemma":[0.9870258,0.0001497149,0.01155107,0.0002022433,0.0008964668,0.000002118953,0.0000766934,0.00003225677,0.00006365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6812739,"threshold_uncertainty_score":0.5122946,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01076005153450268,"score_gpt":0.2298204642697116,"score_spread":0.2190604127352089,"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."}}