{"id":"W2131858055","doi":"10.1073/pnas.0407256101","title":"Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations","year":2004,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":173,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Instituto de Salud Carlos III; National Institutes of Health; Norges Forskningsråd","keywords":"Phenylalanine hydroxylase; Tetrahydrobiopterin; Phenylalanine; Chemistry; Mutant; Phenylketonurias; Pterin; Enzyme; Biochemistry; Cofactor; Stereochemistry; Amino acid; Gene","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":[0.0001222418,0.0004589029,0.0003320347,0.0004194705,0.0002167922,0.0002618134,0.0002476854,0.0006114015,0.0009646808],"category_scores_gemma":[0.000553358,0.000189942,0.0004342969,0.0002726736,0.0002532892,0.0001672483,0.0001711404,0.0003641781,0.000330709],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002616721,"about_ca_system_score_gemma":0.0001819596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001206392,"about_ca_topic_score_gemma":0.0008757597,"domain_scores_codex":[0.9998471,0.00002132468,0.00002540392,0.00004114143,0.00004424936,0.00002080142],"domain_scores_gemma":[0.9998012,0.00002463672,0.00008268187,0.00001203692,0.00001534406,0.00006401644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000984321,0.0001823109,0.04165819,0.00006939474,0.0001216393,0.01897297,0.0002624683,0.0009300533,0.9230543,0.0001627434,0.0002117853,0.01338986],"study_design_scores_gemma":[0.0003224687,0.002227235,0.4084383,0.00002430211,0.0002428414,0.1646408,0.0003117887,0.007073335,0.4128846,0.0004660318,0.003279912,0.00008824791],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990583,0.0001445377,0.0004316892,0.000037893,0.000005221582,0.000004700914,0.00007846545,0.00004683259,0.0001924004],"genre_scores_gemma":[0.9989286,0.00008983692,0.000601463,0.00001706135,0.000004646607,0.000003255694,0.0001241247,0.00001290196,0.0002181101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001206392,"threshold_uncertainty_score":0.003227174,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008488644541712762,"score_gpt":0.2369178510928935,"score_spread":0.2284292065511808,"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."}}