{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000260411,0.0001437912,0.0001413511,0.0001767022,0.0000680402,0.00001944544,0.0001115362,0.0000740617,0.000008313138],"category_scores_gemma":[0.00004917067,0.0001086167,0.00002582286,0.0001812929,0.0001398571,0.000003967239,0.00008239837,0.0001114591,0.00000398297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001991702,"about_ca_system_score_gemma":0.0001073434,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001309667,"about_ca_topic_score_gemma":0.0005860561,"domain_scores_codex":[0.9986562,0.00009073329,0.0001751107,0.0004581409,0.0002377474,0.0003821148],"domain_scores_gemma":[0.9995738,0.00002734766,0.00003053942,0.0002296345,0.00004760884,0.00009104182],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000164937,0.0002570685,0.991614,0.00001598566,0.000008352172,0.000007448789,0.00006700058,0.00001700144,0.0008944686,0.00003230439,0.0006681696,0.006253244],"study_design_scores_gemma":[0.00285073,0.00039657,0.9934582,0.000002020669,0.00001928109,0.00002152817,0.00003269317,0.00002981257,0.0005195718,0.00001387569,0.002495443,0.0001602463],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9502809,0.0488022,0.000003315173,0.00005631864,0.00002811327,0.0003900672,0.000009639465,0.00000519879,0.0004242545],"genre_scores_gemma":[0.9949234,0.004057912,0.0001945294,0.00001516476,0.0001881023,0.00002992505,0.0000813733,0.00001505478,0.0004945181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04474429,"threshold_uncertainty_score":0.4429262,"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."}}