{"id":"W1981454414","doi":"10.1203/01.pdr.0000074972.36356.89","title":"Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening","year":2003,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":89,"is_retracted":false,"has_abstract":false,"ca_institutions":"Newborn Screening Ontario","funders":"National Center for Research Resources; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Medical Research Council; Sundhed og Sygdom, Det Frie Forskningsråd","keywords":"Carnitine; Newborn screening; Internal medicine; Tandem mass spectrometry; Endocrinology; Urine; Asymptomatic; Medicine; Palmitic acid; Chemistry; Fatty acid; Mass spectrometry; Biochemistry; Pediatrics; Chromatography","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":[],"consensus_categories":[],"category_scores_codex":[0.0009642235,0.0002483247,0.000318449,0.0003256929,0.0001724488,0.00004723887,0.0002845934,0.0001927212,0.0001176267],"category_scores_gemma":[0.0006300095,0.0002150198,0.00006747689,0.001176028,0.0002268063,0.000009608501,0.0001020898,0.0003283599,0.000004462553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003874558,"about_ca_system_score_gemma":0.0001696066,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006909612,"about_ca_topic_score_gemma":0.00003083394,"domain_scores_codex":[0.9972942,0.000420955,0.0003271072,0.0006042458,0.0006509175,0.0007025626],"domain_scores_gemma":[0.9987915,0.0000896194,0.0001163208,0.0004525478,0.0003207206,0.0002293208],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004594808,0.0002623858,0.3474198,0.0001738646,0.0002562625,0.000007044679,0.00013398,0.00004937916,0.6326897,0.0002431971,0.005750146,0.01255478],"study_design_scores_gemma":[0.01328115,0.002235165,0.2301181,0.00003175258,0.0004095708,0.00004586858,0.002633943,0.0001661272,0.5500907,0.001711294,0.1973595,0.001916866],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9601241,0.0226892,0.01462923,0.00009680709,0.00004747621,0.0004293239,0.00006390265,0.00001655777,0.001903423],"genre_scores_gemma":[0.9760333,0.01219181,0.01045237,0.00002408226,0.0001741853,0.00004165283,0.0001165641,0.0000547247,0.000911368],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1916093,"threshold_uncertainty_score":0.8768251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01311449594858418,"score_gpt":0.2717527180782356,"score_spread":0.2586382221296514,"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."}}