{"id":"W2782084078","doi":"10.1016/j.mito.2018.01.001","title":"Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6","year":2018,"lang":"en","type":"article","venue":"Mitochondrion","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; University of British Columbia; Canadian Institutes of Health Research; National Institute for Health and Care Research; Michael Smith Health Research BC; BC Children's Hospital; National Institutes of Health; Children's Hospital Foundation","keywords":"Newborn screening; Biotinidase deficiency; Heteroplasmy; Medicine; Mitochondrial disease; Mitochondrial DNA; Pyruvate carboxylase; Genetics; Internal medicine; Biology; Gene; Enzyme; Biochemistry","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":[0.00008593785,0.0001767988,0.0001491888,0.000172513,0.00006710426,0.00001859038,0.000153255,0.000257274,0.00003376018],"category_scores_gemma":[0.0001492027,0.0001603328,0.00004682112,0.0003058853,0.0001501748,0.00000694218,0.00005533136,0.0001938935,0.00002390859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002890052,"about_ca_system_score_gemma":0.00006873016,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001451724,"about_ca_topic_score_gemma":0.001946965,"domain_scores_codex":[0.9987489,0.00008468303,0.0002360351,0.0005017066,0.0001165735,0.0003120834],"domain_scores_gemma":[0.999503,0.00001835912,0.00006283331,0.0002851706,0.00006282131,0.00006779499],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002276856,0.0001108186,0.1203587,0.000003129769,0.000007321476,0.000005498947,0.0001484284,0.0001538934,0.8779877,0.00003793374,0.0006737121,0.0002851785],"study_design_scores_gemma":[0.004668895,0.00118117,0.1800443,0.000075078,0.00002764847,0.0001440294,0.0002023523,0.0007807432,0.8078313,0.00009326568,0.004238452,0.0007126757],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958549,0.0002669419,0.002319114,0.00006558621,0.0002823938,0.0003633794,0.00001369447,0.00001927764,0.0008147473],"genre_scores_gemma":[0.9965901,0.00001496674,0.002302618,0.000226086,0.0003727361,0.00005234567,0.0002471259,0.00002326692,0.0001706972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07015634,"threshold_uncertainty_score":0.6538184,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007118952444181338,"score_gpt":0.2320684237466204,"score_spread":0.2249494713024391,"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."}}