{"id":"W4409901510","doi":"10.1111/cge.14751","title":"Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Liver Disease Diagnosis and Treatment","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services; Alberta Hospital Edmonton; Women and Children’s Health Research Institute; University of Alberta","funders":"","keywords":"Cerebrotendinous Xanthomatosis; Chenodeoxycholic acid; Neurocognitive; Medicine; Internal medicine; Pediatrics; Endocrinology; Psychiatry; Cholesterol","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001338987,0.0006430243,0.0006072599,0.0006294738,0.001054635,0.0004407432,0.0002999275,0.00148412,0.001154744],"category_scores_gemma":[0.0008653693,0.0002388136,0.000461807,0.0004605468,0.000362598,0.0004460066,0.0003083707,0.00129339,0.0002893994],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005186227,"about_ca_system_score_gemma":0.0003999807,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00301227,"about_ca_topic_score_gemma":0.003668542,"domain_scores_codex":[0.9998413,0.00001456182,0.00001930873,0.00004616171,0.00002588635,0.00005279163],"domain_scores_gemma":[0.9995362,0.00006498909,0.00007398806,0.00002649371,0.0000555078,0.0002428823],"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":[0.0006249913,0.0002163452,0.07260674,0.00004419799,0.00004869361,0.9154152,0.0003258497,0.0001081324,0.00303691,0.000114563,0.0006193078,0.006839043],"study_design_scores_gemma":[0.00008622947,0.0008932785,0.1107561,0.0000351513,0.00008747452,0.8846212,0.0001909901,0.000555966,0.00113625,0.0001980693,0.001411009,0.00002836823],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907602,0.002078829,0.0005407801,0.001856135,0.0001532223,0.00005028201,0.0001806378,0.00007266759,0.004307297],"genre_scores_gemma":[0.9977745,0.0004071548,0.0001509009,0.0004818573,0.0001015401,0.000006558861,0.00008410785,0.000007129945,0.0009861081],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00301227,"threshold_uncertainty_score":0.005989492,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03694946697257607,"score_gpt":0.3677613524632099,"score_spread":0.3308118854906338,"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."}}