{"id":"W2163698068","doi":"10.1194/jlr.p043273","title":"A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns","year":2013,"lang":"en","type":"article","venue":"Journal of Lipid Research","topic":"Drug Transport and Resistance Mechanisms","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences","keywords":"Cerebrotendinous Xanthomatosis; Newborn screening; Cholestanol; Derivatization; Hyperphenylalaninemia; Hydroxylamine; Medicine; Reagent; Internal medicine; Krabbe disease; Chromatography; Gastroenterology; Chemistry; Disease; Pediatrics; Biochemistry; High-performance liquid chromatography; Cholesterol; Sterol; Phenylalanine","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":[0.0009059169,0.0001116802,0.0003106438,0.0005238254,0.0001373204,0.00005008564,0.0001305671,0.00007710991,0.00006262786],"category_scores_gemma":[0.0002469699,0.00007200026,0.0001837484,0.0003217319,0.00007331639,0.0001593814,0.00001015118,0.0003798384,0.00000415116],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007370208,"about_ca_system_score_gemma":0.0003700035,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000271716,"about_ca_topic_score_gemma":0.00005975611,"domain_scores_codex":[0.9982733,0.00004001511,0.0004005669,0.0001668277,0.0006601772,0.000459124],"domain_scores_gemma":[0.9981482,0.0002262541,0.0001243525,0.0001507882,0.0009700634,0.0003803612],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.02311165,0.006497753,0.06495412,0.003489338,0.0006225497,0.0008717932,0.0007383819,0.000138662,0.8506527,0.0001916476,0.002925879,0.04580551],"study_design_scores_gemma":[0.06544269,0.03234817,0.5471325,0.004761644,0.001531032,0.001686952,0.004197167,0.009393414,0.309843,0.00529138,0.01741692,0.0009551789],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9766742,0.0001833033,0.01745315,0.003373999,0.0002140929,0.001960227,0.00001977891,0.00001183933,0.0001093857],"genre_scores_gemma":[0.9922305,0.00008966847,0.005729515,0.00002912006,0.0009239061,0.0001720121,0.000004194231,0.00003476128,0.0007863061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5408098,"threshold_uncertainty_score":0.2936085,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02494167083616805,"score_gpt":0.3141907874607163,"score_spread":0.2892491166245483,"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."}}