{"id":"W1989672616","doi":"10.1023/b:boli.0000045769.96657.af","title":"Neonatal screening for glutaryl‐CoA dehydrogenase deficiency","year":2004,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":139,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Newborn screening; Human genetics; Medicine; Metabolic disease; Endocrinology; Internal medicine; Biology; Genetics; Pediatrics; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005652771,0.0006599808,0.001664803,0.0003644186,0.0001294637,0.00008093682,0.0008417197,0.0003362763,0.00005544195],"category_scores_gemma":[0.0005684662,0.000536096,0.002095109,0.0003966784,0.000137208,0.00001565862,0.0001497447,0.0003107167,0.00001082595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001023419,"about_ca_system_score_gemma":0.001811836,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004445793,"about_ca_topic_score_gemma":0.00000221495,"domain_scores_codex":[0.9968835,0.0001824332,0.001370248,0.0005338317,0.0004637224,0.0005663354],"domain_scores_gemma":[0.9970003,0.00003469632,0.001223585,0.0006279275,0.0003531481,0.000760337],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002496919,0.000243665,0.000006883631,0.004864404,0.0005481604,0.00006335117,0.00002211655,0.0001410441,0.00009653353,0.0001580647,0.001186268,0.9924198],"study_design_scores_gemma":[0.001439405,0.0001370259,0.00003673045,0.002213818,0.00313676,0.0001474292,0.00002976045,0.000004000373,0.00005421093,0.000149368,0.992097,0.0005545189],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0005877499,0.987022,0.01026763,0.00003019038,0.0006562835,0.000789972,0.0005969945,0.000009612294,0.00003954608],"genre_scores_gemma":[0.0001116884,0.9895,0.008102469,0.0001924402,0.001180437,0.00007355879,0.000527641,0.0001313445,0.0001803975],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9918653,"threshold_uncertainty_score":0.9997091,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03034979945826385,"score_gpt":0.3218869112672541,"score_spread":0.2915371118089903,"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."}}