{"id":"W3004295541","doi":"10.1016/j.parkreldis.2020.01.017","title":"Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?","year":2020,"lang":"en","type":"letter","venue":"Parkinsonism & Related Disorders","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital","funders":"Joachim Herz Stiftung; Canadian Institutes of Health Research; Alexander von Humboldt-Stiftung; Wellcome Trust; Wellcome","keywords":"Tyrosine hydroxylase; Dystonia; Phenotype; Mutation; Enzyme; Compound heterozygosity; Heterozygote advantage; Tyrosine; Tyrosine 3-Monooxygenase; Genetics; Endocrinology; Gene; Gene mutation; Internal medicine; Biology; Medicine; Biochemistry; Allele; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004085388,0.0007161166,0.0007109813,0.0005712743,0.001014072,0.0007587572,0.0008602652,0.009178183,0.003950792],"category_scores_gemma":[0.0032038,0.0003945156,0.0005214285,0.0004276967,0.001083127,0.001033284,0.0004114519,0.002616509,0.001421974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008240733,"about_ca_system_score_gemma":0.0005585882,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002323534,"about_ca_topic_score_gemma":0.00294551,"domain_scores_codex":[0.9997236,0.00006833104,0.00002881615,0.00006255011,0.000044678,0.00007199797],"domain_scores_gemma":[0.9990158,0.0004871419,0.000101427,0.0000602366,0.00009050487,0.0002447816],"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":[0.0001260409,0.00003339247,0.004950897,0.00004547143,0.000006030236,0.9853814,0.00009028811,0.00005579656,0.001216706,0.0004382242,0.00553339,0.002122328],"study_design_scores_gemma":[0.0001046092,0.0001674032,0.01047798,0.00005121781,0.00002222426,0.9782773,0.0002279909,0.001062605,0.0008550829,0.001760003,0.00696714,0.00002649086],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6888844,0.009114015,0.002157981,0.2294574,0.006325671,0.000261261,0.0005682274,0.0003064052,0.0629246],"genre_scores_gemma":[0.9557768,0.002178359,0.001270962,0.02560544,0.008075832,0.00003921624,0.0001197753,0.00003895606,0.006894664],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009178183,"threshold_uncertainty_score":0.01321673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009061710234110443,"score_gpt":0.2415558707257203,"score_spread":0.2324941604916099,"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."}}