{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002128721,0.0009604247,0.0008444375,0.001538231,0.0006823471,0.000735678,0.0007315145,0.001560427,0.00210284],"category_scores_gemma":[0.001687179,0.000301651,0.000284608,0.001395964,0.0005764351,0.000863691,0.0005847653,0.001011583,0.0007327966],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004762975,"about_ca_system_score_gemma":0.0003235972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001362587,"about_ca_topic_score_gemma":0.001422263,"domain_scores_codex":[0.9996362,0.0000413428,0.00004932124,0.0001050551,0.00005998648,0.0001081032],"domain_scores_gemma":[0.9991041,0.0002374,0.0002979603,0.00005396026,0.00009973312,0.0002068824],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000729548,0.00004469852,0.06677201,0.0001387634,0.00002549489,0.9202524,0.0003133749,0.00008172834,0.002034969,0.0001830741,0.001194909,0.008885579],"study_design_scores_gemma":[0.0000114103,0.00007576303,0.03168469,0.00006893797,0.00002518991,0.9662952,0.0001741896,0.0001613235,0.0003146733,0.0001297426,0.001050518,0.000008287002],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.972427,0.0129867,0.001587204,0.001757197,0.0001879249,0.00007270093,0.0003704653,0.0001630639,0.01044772],"genre_scores_gemma":[0.9950865,0.002974389,0.000405202,0.0005196708,0.00035434,0.000008618889,0.0002298843,0.00001948458,0.0004018379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00210284,"threshold_uncertainty_score":0.007034719,"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."}}