{"id":"W2067694285","doi":"10.1203/01.pdr.0000219387.79887.86","title":"Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency","year":2006,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":271,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba; Children's Hospital of Winnipeg","funders":"Bundesministerium für Bildung und Forschung","keywords":"Medicine; Newborn screening; Pediatrics; Natural history; Asymptomatic; Macrocephaly; Internal medicine; Disease","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":[0.0006555791,0.0002324846,0.0006122896,0.0006796952,0.0006191836,0.0005079143,0.0002903161,0.0005283124,0.0006215916],"category_scores_gemma":[0.003108921,0.0001359804,0.0005186976,0.0007484605,0.0005270293,0.0005450504,0.0003597082,0.0006117381,0.0001307116],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007366037,"about_ca_system_score_gemma":0.0004742526,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005262015,"about_ca_topic_score_gemma":0.004672647,"domain_scores_codex":[0.9996189,0.0001197439,0.00004071231,0.00004788097,0.00006016046,0.0001125755],"domain_scores_gemma":[0.9983678,0.0004181132,0.0005506492,0.00005568832,0.0001081985,0.0004994752],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001201485,0.0002422004,0.9929208,0.0000141907,0.00004432733,0.0006742037,0.0002489966,0.00009439125,0.0001685718,0.00004607814,0.0001451281,0.004199678],"study_design_scores_gemma":[0.00006374683,0.001049262,0.9960084,0.00001199433,0.00004694174,0.001818931,0.000504405,0.0001491704,0.00006653695,0.00009333184,0.0001770548,0.00001025402],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987499,0.0006406709,0.00001656007,0.00008162464,0.000004590328,0.000005739125,0.000158572,0.000002182414,0.0003401338],"genre_scores_gemma":[0.9991711,0.0003302266,0.00002313095,0.0000394894,0.00001236218,0.000008768659,0.0003123826,0.000001389575,0.0001011429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005262015,"threshold_uncertainty_score":0.01046276,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01273790383764892,"score_gpt":0.2764803117029836,"score_spread":0.2637424078653348,"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."}}