{"id":"W2523612431","doi":"10.1038/gim.2016.135","title":"Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening","year":2016,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Biotin and Related Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Michigan Department of Health and Human Services; Virginia Commonwealth University; U.S. Department of Health and Human Services","keywords":"Biotinidase deficiency; Newborn screening; Medicine; Biotin; Pediatrics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002787845,0.0002777215,0.0003457834,0.0002914317,0.0005950499,0.000439867,0.0001849287,0.0004008556,0.001152823],"category_scores_gemma":[0.001399966,0.00007804142,0.0002263049,0.0001790859,0.0001801673,0.0003157923,0.000765553,0.0003866035,0.0002803433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002623901,"about_ca_system_score_gemma":0.0003343643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00187928,"about_ca_topic_score_gemma":0.003494716,"domain_scores_codex":[0.9998726,0.00002700205,0.0000127592,0.00001093619,0.00001972406,0.00005704288],"domain_scores_gemma":[0.9994842,0.00004745206,0.00008096693,0.00002638411,0.00004696144,0.0003139309],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001182246,0.001167318,0.923035,0.00004269565,0.00006216235,0.01504083,0.001232492,0.0002766015,0.001654749,0.0003475093,0.001237163,0.05472134],"study_design_scores_gemma":[0.0001149695,0.005989071,0.9605864,0.0001109011,0.0001381795,0.02372888,0.003383731,0.0008688943,0.001162852,0.0007108522,0.003179948,0.00002526114],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978428,0.0003766242,0.0001506256,0.0001200822,0.00002570602,0.00001660212,0.00009696653,0.000005522966,0.001365087],"genre_scores_gemma":[0.9985108,0.0003804601,0.0001420239,0.00006316919,0.00002214763,0.00001392137,0.0001697552,0.000003043298,0.0006946535],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00187928,"threshold_uncertainty_score":0.00385654,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007445600988854908,"score_gpt":0.2565801099364169,"score_spread":0.249134508947562,"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."}}