{"id":"W3191586075","doi":"10.3233/jnd-210712","title":"Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report","year":2021,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Liver Diseases and Immunity","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Astellas Pharma","keywords":"Natural history; Progressive familial intrahepatic cholestasis; Liver biopsy; Cholestasis; Disease; Myopathy; Muscle biopsy; Congenital myopathy","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":[0.0002312616,0.0006653969,0.0003684087,0.001353885,0.0007244266,0.0006831028,0.0004171293,0.001079274,0.001643106],"category_scores_gemma":[0.001199586,0.0004871055,0.0003032988,0.0005936756,0.0008493529,0.0009077853,0.000669361,0.0005275845,0.0007040463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002892094,"about_ca_system_score_gemma":0.000233772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006745099,"about_ca_topic_score_gemma":0.000890631,"domain_scores_codex":[0.999739,0.00004117501,0.00003686802,0.00006447158,0.00004989632,0.00006855774],"domain_scores_gemma":[0.9992919,0.0002171364,0.0002124676,0.00008422876,0.00004599765,0.0001482006],"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":[0.00008928734,0.00004210522,0.1743137,0.00006794851,0.00001502965,0.8138107,0.0003940722,0.00006016753,0.006472686,0.00008875046,0.0002091563,0.00443641],"study_design_scores_gemma":[0.000005654947,0.00006294196,0.04990689,0.000009971457,0.00001307975,0.9484397,0.0001665533,0.0001263499,0.0008541991,0.00004561312,0.0003623188,0.000006743243],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958946,0.001442714,0.0005701307,0.0001301933,0.00001596673,0.00002829939,0.00005235038,0.0000341261,0.001831709],"genre_scores_gemma":[0.9988934,0.0004205887,0.000305418,0.00004904088,0.00005743425,0.000006652461,0.00004294769,0.00000585085,0.0002186758],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001643106,"threshold_uncertainty_score":0.005496681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01565401931370311,"score_gpt":0.251034254332721,"score_spread":0.2353802350190179,"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."}}