{"id":"W2042259273","doi":"10.1016/j.ymgme.2008.01.003","title":"Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms","year":2008,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Western University; BC Children's Hospital; University of British Columbia","funders":"Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Hyperphenylalaninemia; Tetrahydrobiopterin; Biopterin; GTP cyclohydrolase I; Homovanillic acid; Internal medicine; Neopterin; Endocrinology; Medicine; Dystonia; Phenylalanine; Carbidopa; Serotonin; Biology; Genetics; Psychiatry; Amino acid; Levodopa; Nitric oxide synthase; 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":[0.0003370693,0.002103847,0.001071837,0.002039125,0.000680942,0.0006952444,0.0007869814,0.001172021,0.003764795],"category_scores_gemma":[0.001734276,0.0005164593,0.0004349561,0.0009545348,0.001390653,0.0004200109,0.001148363,0.000719483,0.000814893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003275628,"about_ca_system_score_gemma":0.0004757566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001420119,"about_ca_topic_score_gemma":0.0009589064,"domain_scores_codex":[0.9995763,0.00006136728,0.00005520315,0.0001078224,0.0001169056,0.00008252628],"domain_scores_gemma":[0.998798,0.000577668,0.0002307613,0.00009448008,0.00006563983,0.0002334538],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.003979278,0.00033013,0.0634782,0.0003987273,0.0002477477,0.5279346,0.0009847395,0.0005750265,0.3814673,0.005793025,0.001544061,0.01326714],"study_design_scores_gemma":[0.0002842822,0.0006879732,0.09421241,0.00006070222,0.0003100205,0.8599163,0.0004035467,0.001562855,0.03773269,0.002072548,0.002691725,0.00006497186],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9848074,0.001418227,0.003321739,0.0004894426,0.00005531574,0.00004003424,0.001050299,0.0002506473,0.00856691],"genre_scores_gemma":[0.9967247,0.0004669405,0.001300277,0.00009796896,0.00004964181,0.00001956791,0.0002702622,0.00006854844,0.001002104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003764795,"threshold_uncertainty_score":0.01259452,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01087625733979592,"score_gpt":0.2484520621540355,"score_spread":0.2375758048142396,"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."}}