{"id":"W4413889205","doi":"10.1002/jmd2.70042","title":"Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study","year":2025,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; London Health Sciences Centre; McMaster Children's Hospital; University of Alberta; Children's Hospital Research Institute of Manitoba; Nova Scotia Health Authority; Izaak Walton Killam Health Centre; Bruyère; Children's Hospital of Eastern Ontario; McGill University; McGill University Health Centre; University of Ottawa; Ottawa Hospital; Western University; University of Toronto; Montreal Children's Hospital; Dalhousie University; SickKids Foundation; BC Children's Hospital; Hospital for Sick Children; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Hyperphenylalaninemia; Phenylalanine hydroxylase; Metabolic control analysis; Medicine; Phenylalanine; Retrospective cohort study; Cohort; Pediatrics; Internal medicine; Endocrinology; Biology; Insulin; Biochemistry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0009970721,0.0004954384,0.0004880195,0.001963387,0.002194949,0.001199964,0.001221127,0.0005667366,0.001516231],"category_scores_gemma":[0.002640028,0.0005618101,0.0008308226,0.004722301,0.0005681041,0.0004657724,0.000695709,0.0007652267,0.0002102813],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01141507,"about_ca_system_score_gemma":0.01176726,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9533179,"about_ca_topic_score_gemma":0.9453416,"domain_scores_codex":[0.9986677,0.0001062423,0.00009741937,0.0003276323,0.0004650782,0.0003359476],"domain_scores_gemma":[0.9965962,0.0001748171,0.001243394,0.000208181,0.001267733,0.0005096611],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002983227,0.000009947348,0.9991947,0.000006617931,0.00002345281,0.00002999362,0.00008143274,0.00001741283,0.00003990868,0.00001087836,0.0001460534,0.0004097948],"study_design_scores_gemma":[0.000004195811,0.00002710922,0.9991725,0.00001170456,0.00002119691,0.0001036365,0.0002465113,0.0001379607,0.00002643224,0.000004739572,0.0002369112,0.000007070993],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949352,0.0003649487,0.00008474398,0.00007376558,0.00000652428,0.00003835092,0.003877151,0.000008649451,0.0006106648],"genre_scores_gemma":[0.9972878,0.0003219323,0.0001868118,0.00005358544,0.000005854646,0.00002558061,0.001939912,0.000004377031,0.0001741421],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04668212,"threshold_uncertainty_score":0.09391403,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004583463661707295,"score_gpt":0.2591492835875983,"score_spread":0.254565819925891,"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."}}