{"id":"W1552291236","doi":"10.1007/8904_2011_96","title":"Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response?","year":2011,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Phenylalanine hydroxylase; Genotype; Allele; Medicine; Phenotype; Clinical trial; Internal medicine; Missense mutation; Pharmacology; Genetics; Biology; Gene; Phenylalanine","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":[0.002049459,0.0007570375,0.003636726,0.0004586993,0.000391567,0.0007631254,0.0005408144,0.00162093,0.001574302],"category_scores_gemma":[0.003833414,0.000258819,0.00118274,0.0005954822,0.0005483258,0.0008228237,0.0001993872,0.002025893,0.0003590558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005300261,"about_ca_system_score_gemma":0.0007799411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000412616,"about_ca_topic_score_gemma":0.001408736,"domain_scores_codex":[0.9992515,0.0003908233,0.00009123397,0.00008084794,0.00008620906,0.00009931633],"domain_scores_gemma":[0.9972304,0.001317952,0.0005522604,0.0001070424,0.0001218919,0.0006704943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"observational","study_design_scores_codex":[0.4727444,0.003858696,0.1126109,0.001453072,0.006294365,0.001617479,0.0002600358,0.002805596,0.02278596,0.000833009,0.007610188,0.3671263],"study_design_scores_gemma":[0.1801812,0.1751799,0.6031459,0.0009012736,0.005654163,0.003981949,0.0004539865,0.006774986,0.00693964,0.004507808,0.01188616,0.0003930327],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9657429,0.02507838,0.0007196032,0.004558777,0.0006507512,0.0002057669,0.0004963399,0.0001192102,0.002428277],"genre_scores_gemma":[0.9912956,0.00461177,0.0008037196,0.001418647,0.0003598562,0.0002334407,0.0005843483,0.0000176491,0.0006749473],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003636726,"threshold_uncertainty_score":0.01083869,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09694479630655344,"score_gpt":0.3556639745040179,"score_spread":0.2587191781974645,"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."}}