{"id":"W2165885625","doi":"10.1016/j.ymgme.2010.01.013","title":"Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria","year":2010,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Medizinische Universität Wien","keywords":"Argininosuccinate lyase; Argininosuccinate synthase; Newborn screening; Citrullinemia; Medicine; Pediatrics; Hyperammonemia; Failure to thrive; Citrulline; Internal medicine; Intellectual disability; Urea cycle; Arginine; Gastroenterology; Biology; Genetics; Psychiatry","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":[0.0002766818,0.0003875829,0.0005943723,0.000841127,0.0006597966,0.000695425,0.0003005112,0.0006574904,0.00114188],"category_scores_gemma":[0.001504871,0.0001905762,0.0006703617,0.0005339073,0.0005218108,0.0003462775,0.000707101,0.0005460976,0.0004019073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005343034,"about_ca_system_score_gemma":0.0003159332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003241312,"about_ca_topic_score_gemma":0.001240812,"domain_scores_codex":[0.999685,0.00006414087,0.00004421351,0.0000546852,0.00002857673,0.0001233636],"domain_scores_gemma":[0.9992841,0.0001558661,0.0001935294,0.00003846173,0.00006784501,0.0002601385],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002432689,0.0003794734,0.9607179,0.00004273824,0.000188073,0.02252857,0.0007151915,0.0005787816,0.002658085,0.0001795434,0.0003074722,0.009271467],"study_design_scores_gemma":[0.0001047397,0.001840046,0.9636439,0.00006302234,0.0003229879,0.03074393,0.000894608,0.0006809711,0.0006463379,0.0003419112,0.0006549047,0.00006254078],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990269,0.0003324577,0.00007844427,0.00003571477,0.00001222782,0.000003192714,0.0001044813,0.000002953313,0.000403568],"genre_scores_gemma":[0.9993219,0.000154711,0.00003130544,0.00002868981,0.00001513844,0.000003567746,0.0002331957,0.00000248068,0.0002090725],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003241312,"threshold_uncertainty_score":0.006444871,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004906112379665063,"score_gpt":0.229621495813985,"score_spread":0.22471538343432,"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."}}