{"id":"W4281752599","doi":"10.1002/jmd2.12306","title":"Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency","year":2022,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Decompensation; Tyrosine hydroxylase; Presentation (obstetrics); Medicine; Case presentation; Internal medicine; Surgery","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":[0.0002697321,0.00009212002,0.0001189487,0.00004885161,0.00009215803,0.000009596681,0.0001083244,0.00003456425,0.0002270038],"category_scores_gemma":[0.00006705597,0.00009053423,0.00006775509,0.0001039102,0.00004640795,0.000004019809,0.0001416753,0.00005452126,0.000001093027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002693217,"about_ca_system_score_gemma":0.0000625769,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003013761,"about_ca_topic_score_gemma":0.00001630142,"domain_scores_codex":[0.9988971,0.0001241479,0.0003317489,0.0003246831,0.0001925304,0.0001298246],"domain_scores_gemma":[0.9992648,0.000005758554,0.0002462668,0.0003806452,0.00005327673,0.00004927554],"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":[0.0004201258,0.001590845,0.1012594,0.00007301431,0.0000653118,0.0002040685,0.0004829399,0.01449871,0.8352981,0.0001908732,0.004931104,0.04098557],"study_design_scores_gemma":[0.004119101,0.004928151,0.5390276,0.00001006349,0.0003185769,0.002541042,0.002366937,0.003509816,0.344504,0.007007574,0.09027654,0.001390515],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961358,0.0006163112,0.0007740102,0.0001018427,0.0005125848,0.0002095995,0.000006952923,0.0000106644,0.001632257],"genre_scores_gemma":[0.9985963,0.00003219326,0.0002983525,0.0002362788,0.00004858103,0.00004255335,0.0003129823,0.00001150184,0.0004212397],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.490794,"threshold_uncertainty_score":0.3691879,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01405545862316202,"score_gpt":0.2666126950600132,"score_spread":0.2525572364368511,"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."}}