{"id":"W2113222463","doi":"10.1002/ana.20532","title":"6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia","year":2005,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"","keywords":"Hyperphenylalaninemia; Tetrahydrobiopterin; Biopterin; Carbidopa; Endocrinology; Internal medicine; Cerebrospinal fluid; Dystonia; Medicine; Zolmitriptan; Phenylalanine; Levodopa; Chemistry; Psychiatry; Biochemistry; Nitric oxide synthase; Disease; Parkinson's disease; Amino acid","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":[0.0001947949,0.001796583,0.0008972829,0.000934911,0.0008934759,0.0004076808,0.0004289408,0.001127281,0.001781758],"category_scores_gemma":[0.001220219,0.000541075,0.0003660294,0.0004886385,0.0008958012,0.0006461737,0.0006706985,0.00119606,0.0006227802],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005158891,"about_ca_system_score_gemma":0.0006000209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003120936,"about_ca_topic_score_gemma":0.003923669,"domain_scores_codex":[0.9997407,0.00003788042,0.0000313488,0.00006447666,0.00006090868,0.00006478602],"domain_scores_gemma":[0.9995425,0.0001067673,0.00009385703,0.00001674221,0.00003931795,0.0002007953],"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":[0.0002607482,0.00009380815,0.02832338,0.0001231559,0.00003116193,0.9467421,0.0005204032,0.0002326544,0.01633399,0.0004511052,0.0007149586,0.006172605],"study_design_scores_gemma":[0.00003843698,0.0004606628,0.04121077,0.00001782476,0.00003043278,0.9532135,0.0001291371,0.0004216376,0.002867359,0.0002686108,0.001323791,0.00001773971],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881614,0.001140965,0.001789086,0.001280928,0.00009715368,0.0001098227,0.0002911833,0.0001876773,0.006941698],"genre_scores_gemma":[0.996542,0.0006071621,0.000679612,0.000269525,0.00008061381,0.00001797681,0.00009433233,0.00002613037,0.001682531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003120936,"threshold_uncertainty_score":0.006205499,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02124107369358612,"score_gpt":0.270911596752555,"score_spread":0.2496705230589689,"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."}}