{"id":"W197024695","doi":"10.1023/a:1012463726810","title":"A case of PDH‐E1α mosaicism in a male patient with severe metabolic lactic acidosis","year":2001,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; SickKids Foundation; Princess Margaret Cancer Centre; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Lactic acidosis; Metabolic acidosis; Metabolic disease; Medicine; Acidosis; Internal medicine; Endocrinology; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003172324,0.0003002739,0.0006201301,0.0003095607,0.00004511929,0.00002857989,0.0002588292,0.0001117303,0.0001750174],"category_scores_gemma":[0.0002262065,0.0002370739,0.0002680513,0.000606238,0.000113802,0.00002758821,0.0000781818,0.0001947564,0.000003553314],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004750588,"about_ca_system_score_gemma":0.0003246651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007918333,"about_ca_topic_score_gemma":0.0000757176,"domain_scores_codex":[0.9979312,0.0002224684,0.0008022498,0.0002995356,0.0003696283,0.0003748879],"domain_scores_gemma":[0.9981099,0.00001854751,0.0006037787,0.0004760451,0.0003464707,0.0004453039],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.02462734,0.01035394,0.2482358,0.0005967056,0.003556488,0.03527951,0.003543156,0.007652734,0.2138913,0.001008873,0.005577734,0.4456764],"study_design_scores_gemma":[0.02375137,0.002127619,0.2612689,0.0004843107,0.00353065,0.04656949,0.005078287,0.0003701941,0.03354731,0.0006183893,0.6202975,0.002355995],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9539892,0.04460959,0.0002217891,0.0001482935,0.0001556809,0.0002542816,0.00006048415,0.000004065381,0.0005566066],"genre_scores_gemma":[0.9915835,0.006061825,0.001440059,0.0004765005,0.0001593669,0.00002158522,0.00001847254,0.00004097448,0.0001976612],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6147197,"threshold_uncertainty_score":0.9667594,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008187620547822105,"score_gpt":0.233122287237197,"score_spread":0.2249346666893749,"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."}}