{"id":"W3036706358","doi":"10.1590/2326-4594-jiems-2020-0002","title":"Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III","year":2020,"lang":"en","type":"article","venue":"Journal of Inborn Errors of Metabolism and Screening","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Mucopolysaccharidosis; Neurocognitive; Medicine; Disease; Pediatrics; Signs and symptoms; Presentation (obstetrics); Intensive care medicine; Pathology; Internal medicine; Surgery; Psychiatry; Cognition","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":[0.002022469,0.000137329,0.001089323,0.000160753,0.00007213526,0.000007807288,0.0002878427,0.0001037985,0.00003913529],"category_scores_gemma":[0.001570415,0.00008666916,0.0004068706,0.0003369974,0.0002058098,0.0001299592,0.0001264741,0.0003841419,2.29849e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005932945,"about_ca_system_score_gemma":0.0002902028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008110975,"about_ca_topic_score_gemma":0.000004810923,"domain_scores_codex":[0.9971118,0.00009202443,0.001676569,0.0001503847,0.0007680281,0.0002011893],"domain_scores_gemma":[0.9970276,0.0007133784,0.001133595,0.0001406678,0.0007426117,0.0002420894],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002144728,0.0003196938,0.06590706,0.0002731578,0.001485592,0.00001845675,0.006340401,0.00001422207,0.003506154,0.00005805536,0.0006239168,0.9193085],"study_design_scores_gemma":[0.02334127,0.003233596,0.8248014,0.00125913,0.002528479,0.00007089589,0.01667793,0.008664153,0.09708273,0.00008274324,0.02183321,0.0004244686],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9485983,0.009066872,0.04000872,0.001806194,0.000126166,0.0003447491,0.00002180866,0.000003517182,0.00002371938],"genre_scores_gemma":[0.8237851,0.001227078,0.1745498,0.0001588693,0.0002372758,0.000009714303,0.000001304461,0.00001847988,0.00001229497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9188841,"threshold_uncertainty_score":0.3534266,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1017834320481455,"score_gpt":0.3715515309914177,"score_spread":0.2697680989432722,"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."}}