{"id":"W2118700261","doi":"10.1212/01.wnl.0000073983.82532.49","title":"Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a <i>GCH1</i> mutation","year":2003,"lang":"en","type":"article","venue":"Neurology","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health","funders":"","keywords":"GTP cyclohydrolase I; Biopterin; Tetrahydrobiopterin; Dystonia; Endocrinology; Tyrosine hydroxylase; Internal medicine; Parkinsonism; Dopamine; Mutation; Prolactin; Medicine; Asymptomatic; Compound heterozygosity; Penetrance; Levodopa; Hyperphenylalaninemia; Genetics; Biology; Psychiatry; Hormone; Gene; Phenotype","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":[0.0004034709,0.0007787365,0.0005140714,0.001085736,0.0005455579,0.000479929,0.0002724893,0.001085306,0.001057482],"category_scores_gemma":[0.001967213,0.0004699657,0.0002584294,0.0004261146,0.0007604053,0.0003287801,0.0002754776,0.000541991,0.00017654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005719761,"about_ca_system_score_gemma":0.0002436191,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001698142,"about_ca_topic_score_gemma":0.001436571,"domain_scores_codex":[0.9996295,0.00008630264,0.00005777273,0.00008486754,0.00008040784,0.00006106976],"domain_scores_gemma":[0.9992472,0.0003235153,0.000131242,0.00002404878,0.00003746476,0.0002364716],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.007188192,0.000652329,0.6848429,0.0001260483,0.0001462358,0.1624098,0.001581199,0.0004055198,0.1316861,0.000269581,0.0004260739,0.01026603],"study_design_scores_gemma":[0.0002719648,0.003443171,0.837883,0.00002295201,0.0001378366,0.1472817,0.0005086984,0.001211874,0.008533329,0.0001674466,0.0004974873,0.00004050396],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992359,0.0002291052,0.00008440601,0.00002756168,0.000006847676,0.000007332905,0.00004362624,0.00001001216,0.0003553162],"genre_scores_gemma":[0.9996722,0.00005366061,0.0001057187,0.00002743844,0.00001128186,0.000003380218,0.00005235557,0.000002988374,0.0000709864],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001698142,"threshold_uncertainty_score":0.004150033,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003821597463602519,"score_gpt":0.2220354503171941,"score_spread":0.2182138528535915,"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."}}