{"id":"W3131897099","doi":"10.1002/jimd.12371","title":"New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches","year":2021,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Hospital for Sick Children; McGill University","keywords":"Hyperammonemia; Carnitine; Internal medicine; Gastroenterology; Medicine; Metabolic disorder; Endocrinology; Propionic acidemia; Ventricular hypertrophy; Cardiomyopathy; Beta oxidation; Cardiology; Heart failure; Left ventricular hypertrophy; Metabolism","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":[0.0001492783,0.0002775,0.0003826139,0.0001231316,0.00008456443,0.00006353418,0.0002242668,0.00009668334,0.00006585257],"category_scores_gemma":[0.00006862336,0.0002392454,0.0002345105,0.0001562106,0.00008658163,0.00001863142,0.00009605253,0.0001397029,0.00000307276],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002814351,"about_ca_system_score_gemma":0.0002493122,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001565801,"about_ca_topic_score_gemma":0.00002268589,"domain_scores_codex":[0.9982994,0.0002275435,0.0004805361,0.00039729,0.0003428992,0.0002523579],"domain_scores_gemma":[0.9987252,0.0000165598,0.000214438,0.0003661786,0.0001698764,0.0005077742],"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":[0.001315196,0.001049339,0.0004932898,0.0003058028,0.001258475,0.002036686,0.001774055,0.0003725658,0.06685892,0.0026302,0.0007397828,0.9211657],"study_design_scores_gemma":[0.01759065,0.0007040877,0.2553917,0.0003149403,0.006443561,0.0008578544,0.01928056,0.0002614706,0.0283375,0.01366956,0.6550149,0.002133205],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5486249,0.4476208,0.002550092,0.0004593174,0.0002001996,0.0001083065,0.00001578442,0.000005356428,0.0004152883],"genre_scores_gemma":[0.8960071,0.09951366,0.003148018,0.0004212676,0.0005394236,0.000008015929,0.00009498784,0.00003347235,0.0002341122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9190325,"threshold_uncertainty_score":0.9756147,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02362334255269068,"score_gpt":0.2357958009063411,"score_spread":0.2121724583536504,"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."}}