{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001716067,0.0001615835,0.0002322518,0.0000609531,0.00004304109,0.000004115274,0.000132826,0.0001356922,0.000007309017],"category_scores_gemma":[0.00008007452,0.0000871978,0.0000202376,0.0001084586,0.0004348155,0.000002356797,0.0001015823,0.00007533227,8.010048e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000470572,"about_ca_system_score_gemma":0.00001675164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003859369,"about_ca_topic_score_gemma":0.00008635817,"domain_scores_codex":[0.9989394,0.00003586942,0.0002800798,0.0003326311,0.0001853434,0.0002267036],"domain_scores_gemma":[0.9994944,0.00001709273,0.0001135922,0.0002248935,0.00008301989,0.00006698771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001387309,0.00008060339,0.8391919,0.000108008,0.000051157,0.000004083631,0.0002305741,0.000001225387,0.1354409,0.000005535387,0.0008310042,0.02391632],"study_design_scores_gemma":[0.009098818,0.001091542,0.8807747,0.001770481,0.00008757341,0.00001576444,0.001094447,0.0000151915,0.1032983,0.00002939138,0.002363268,0.0003605355],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889112,0.006610917,0.003254788,0.0006710617,0.0001066541,0.000233957,0.00001762568,0.000006051843,0.0001877306],"genre_scores_gemma":[0.9961293,0.002342032,0.001007445,0.0001183456,0.00004668411,0.00000482215,0.00002052723,0.00001568804,0.0003151648],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04158278,"threshold_uncertainty_score":0.3555823,"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."}}