{"id":"W3015833318","doi":"10.1016/j.parkreldis.2020.03.026","title":"Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors","year":2020,"lang":"en","type":"letter","venue":"Parkinsonism & Related Disorders","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto Western Hospital","funders":"","keywords":"Tyrosine hydroxylase; Dystonia; Mutation; Compound heterozygosity; Levodopa; Genetics; Gene mutation; Hereditary spastic paraplegia; Phenotype; Gene; Dopamine; Medicine; Psychology; Internal medicine; Biology; Neuroscience; Parkinson's disease","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":[0.0009595407,0.0007713972,0.001524022,0.0008026941,0.00161939,0.001400952,0.001637181,0.03014531,0.003948125],"category_scores_gemma":[0.00898418,0.0005816754,0.001252222,0.0005690216,0.001389876,0.001605235,0.0006548174,0.01814224,0.002379908],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002302015,"about_ca_system_score_gemma":0.001111406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004059688,"about_ca_topic_score_gemma":0.00416041,"domain_scores_codex":[0.9990749,0.0002328485,0.0001551277,0.0002009099,0.0001547185,0.0001813613],"domain_scores_gemma":[0.9972755,0.001644906,0.0001748318,0.0001066293,0.0003602712,0.0004378071],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.0007239231,0.0002107633,0.008004538,0.0001971275,0.00009103926,0.3672869,0.000370168,0.0004508899,0.001382928,0.003046225,0.6091233,0.009112235],"study_design_scores_gemma":[0.001144116,0.001072345,0.02956758,0.001268499,0.0003351061,0.4120708,0.002654417,0.009023892,0.002873027,0.02237212,0.5171275,0.0004904273],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.009742083,0.001571355,0.0002987383,0.949742,0.0302061,0.00007116155,0.0002685094,0.00007334747,0.0080266],"genre_scores_gemma":[0.08301669,0.00182297,0.0008049292,0.828147,0.07217549,0.0001024384,0.0002077542,0.0000736685,0.01364917],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.03014531,"threshold_uncertainty_score":0.01670241,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0104271834527437,"score_gpt":0.2457038045726311,"score_spread":0.2352766211198873,"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."}}