{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002846558,0.001818925,0.0006799281,0.002355081,0.0007048653,0.0005782372,0.0007880792,0.001547287,0.003324759],"category_scores_gemma":[0.001610432,0.0006401376,0.0005622571,0.001122301,0.001120796,0.0006426968,0.0008532331,0.001313395,0.0006677057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004665167,"about_ca_system_score_gemma":0.0004316141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002522209,"about_ca_topic_score_gemma":0.001386656,"domain_scores_codex":[0.9996396,0.00002560362,0.00004662279,0.00008854507,0.00008626607,0.0001132944],"domain_scores_gemma":[0.9992068,0.0001998765,0.0002402597,0.00003263196,0.00007159692,0.0002488642],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001212465,0.0001168497,0.1177009,0.0001940958,0.00006353783,0.8228088,0.0007728256,0.0007502658,0.0497137,0.0008035475,0.0006877998,0.005175225],"study_design_scores_gemma":[0.00005983452,0.0003652704,0.1399069,0.00003599366,0.0001086417,0.8408604,0.0005903962,0.0009965793,0.01515006,0.0004583958,0.001434223,0.00003324707],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945416,0.0005838409,0.000966285,0.0003775501,0.00004836005,0.00004631332,0.0005385107,0.0001255469,0.002771962],"genre_scores_gemma":[0.9980212,0.0003345371,0.0006963905,0.00009708594,0.00004517582,0.0000145933,0.0002150096,0.00003560356,0.0005402897],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003324759,"threshold_uncertainty_score":0.01112241,"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."}}