{"id":"W2024591701","doi":"10.1016/j.ymgme.2005.07.032","title":"Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?","year":2005,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; Western University; Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Hyperphenylalaninemia; Hemochromatosis; Medicine; Tubulopathy; Tetrahydrobiopterin; Endocrinology; Etiology; Internal medicine; Phenylalanine hydroxylase; Hydrops fetalis; Phenylalanine; Kidney; Biology; Genetics; Pregnancy; Fetus","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":[0.0004336372,0.001986843,0.001389897,0.001331526,0.001355204,0.001130209,0.001358873,0.004590862,0.005774076],"category_scores_gemma":[0.0047579,0.0006413204,0.000560772,0.0009796283,0.001713865,0.002026892,0.001107648,0.001450243,0.0006896217],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007200169,"about_ca_system_score_gemma":0.0007285685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009177763,"about_ca_topic_score_gemma":0.0009157058,"domain_scores_codex":[0.9994873,0.00007833177,0.00007187538,0.0001471514,0.00007538799,0.000139903],"domain_scores_gemma":[0.9986589,0.0005463071,0.0002480746,0.00008824065,0.00005161621,0.0004067227],"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":[0.00006577053,0.00002282298,0.009592253,0.00002186835,0.000006859331,0.987281,0.0001487861,0.00005513581,0.0008512711,0.0004986547,0.0001497697,0.001305758],"study_design_scores_gemma":[0.0000130678,0.00004194625,0.00440798,0.000009683569,0.00001181663,0.9940234,0.0001489653,0.0001865162,0.0006043462,0.0003493462,0.000194215,0.000008803781],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9842132,0.001320947,0.002056726,0.004528177,0.0002119216,0.00004578932,0.0002461494,0.0001120419,0.007265058],"genre_scores_gemma":[0.996071,0.0006465538,0.001193161,0.0005422463,0.0004786382,0.00002394697,0.00009741294,0.00002815826,0.0009187959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005774076,"threshold_uncertainty_score":0.0193162,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004009229511840676,"score_gpt":0.208918673869522,"score_spread":0.2049094443576813,"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."}}