{"id":"W2108299788","doi":"10.1186/s13023-015-0242-9","title":"The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome","year":2015,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministero della Salute","keywords":"Hyperammonemia; Ornithine transcarbamylase; Medicine; Urea cycle; Internal medicine; Lethargy; Endocrinology; Pediatrics; Biology; Genetics","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":[0.001666815,0.0004683477,0.001293343,0.00628582,0.0002224617,0.0006640956,0.0004867926,0.000469036,0.001089629],"category_scores_gemma":[0.004646382,0.0001842025,0.0008675759,0.009479367,0.0006082864,0.0006137,0.0004706072,0.0001629474,0.0001686521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004161841,"about_ca_system_score_gemma":0.001065291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001008227,"about_ca_topic_score_gemma":0.002468042,"domain_scores_codex":[0.997731,0.0003543468,0.001063023,0.0002653363,0.0005294178,0.00005686406],"domain_scores_gemma":[0.9921499,0.003384878,0.003634651,0.0001721724,0.000550123,0.0001082195],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009307412,0.0000822984,0.4187987,0.2442458,0.01006986,0.01985114,0.0009543118,0.0003050588,0.006178738,0.0006795948,0.006220067,0.2916838],"study_design_scores_gemma":[0.0003108413,0.0005840253,0.6585091,0.1247408,0.02162115,0.1161254,0.001591203,0.0002212615,0.003112419,0.0009161825,0.0721938,0.00007379876],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.07113499,0.9249825,0.0002506947,0.0002644818,0.00008039145,0.00009223114,0.001798989,0.00001118558,0.001384579],"genre_scores_gemma":[0.4087848,0.5864556,0.0009498912,0.0006357745,0.0002579098,0.0001291493,0.002523619,0.000007754916,0.0002555681],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00628582,"threshold_uncertainty_score":0.00881505,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01905905471444074,"score_gpt":0.2906864802215086,"score_spread":0.2716274255070679,"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."}}