{"id":"W2108607187","doi":"10.1186/1750-1172-2-48","title":"Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome","year":2007,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":304,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Hypoxanthine-guanine phosphoribosyltransferase; Lesch–Nyhan syndrome; Choreoathetosis; Prenatal diagnosis; Medicine; Gout; Hyperuricemia; Uric acid; Psychomotor retardation; Hypoxanthine; Internal medicine; Biology; Genetics; Endocrinology; Pediatrics; Pregnancy; Dystonia; Fetus; Pathology; Biochemistry; Gene; Psychiatry; Enzyme","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007447089,0.0009925109,0.0003300413,0.0006446925,0.0003264056,0.0002635435,0.0002829196,0.0006034267,0.002717485],"category_scores_gemma":[0.0004152216,0.0001163096,0.0001228955,0.0006059166,0.000380288,0.0002658531,0.0003722454,0.0002560467,0.0004876951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002641036,"about_ca_system_score_gemma":0.0003636412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002728786,"about_ca_topic_score_gemma":0.003169088,"domain_scores_codex":[0.9999105,0.000009792212,0.000006668157,0.00002826095,0.00002677347,0.00001796977],"domain_scores_gemma":[0.9999182,0.00001964771,0.00002629033,0.000002448506,0.000009305406,0.00002402718],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003380791,0.0001627368,0.07598855,0.0006095687,0.0001601023,0.7699828,0.0009886259,0.0006719871,0.07667081,0.002592383,0.006323101,0.06551114],"study_design_scores_gemma":[0.00005638142,0.0001738871,0.1149442,0.0001658584,0.000128258,0.8540332,0.0002604956,0.0008834662,0.01413735,0.000841466,0.01433506,0.00004039714],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9607038,0.01398268,0.00461681,0.001082215,0.0001242823,0.0001965672,0.0007838451,0.0004609337,0.01804887],"genre_scores_gemma":[0.9869115,0.003964803,0.00174037,0.0002985946,0.00006018152,0.00003707764,0.0002917506,0.00002048317,0.006675029],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.002728786,"threshold_uncertainty_score":0.0090909,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03083610618768334,"score_gpt":0.328482394034099,"score_spread":0.2976462878464156,"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."}}