{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000568558,0.001493431,0.0007994442,0.00200805,0.0007827042,0.001899857,0.001707799,0.00181884,0.003433756],"category_scores_gemma":[0.002131136,0.00057983,0.00064574,0.001226308,0.001001636,0.001636401,0.001263718,0.001155207,0.001408787],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008983441,"about_ca_system_score_gemma":0.0007231915,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002268863,"about_ca_topic_score_gemma":0.002487515,"domain_scores_codex":[0.9995629,0.00008479782,0.0001113291,0.0000795686,0.00005922304,0.0001021676],"domain_scores_gemma":[0.9993809,0.0001810561,0.0001288094,0.00005592535,0.0000990168,0.0001543146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002268964,0.0002351552,0.05402191,0.0008031321,0.00009036546,0.7153668,0.002257687,0.0006957513,0.005921567,0.001012614,0.01047221,0.208896],"study_design_scores_gemma":[0.0000780729,0.0002798139,0.02865565,0.0004745644,0.0001240679,0.930441,0.00240833,0.0006882072,0.001008059,0.00157883,0.034184,0.00007937743],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.758283,0.1778,0.01276614,0.01769561,0.001940024,0.0003706777,0.0006225357,0.0005211336,0.03000092],"genre_scores_gemma":[0.8682181,0.1080778,0.009253351,0.003843782,0.004899968,0.0002077684,0.001220153,0.0001025009,0.004176561],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003433756,"threshold_uncertainty_score":0.01148707,"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."}}