{"id":"W4391051742","doi":"10.1210/jcemcr/luae004","title":"The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis","year":2024,"lang":"en","type":"article","venue":"JCEM Case Reports","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre Hospitalier de l’Université de Montréal; Université de Montréal; Montreal Clinical Research Institute","funders":"Institut de Recherche Clinique De Montréal","keywords":"Cerebrotendinous Xanthomatosis; Pathognomonic; Medicine; Differential diagnosis; Disease; Genetic diagnosis; Xanthoma; Pediatrics; Familial hypercholesterolemia; Pathology; Internal medicine; Genetics; Gene; Biology; Cholesterol","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.000296316,0.0008167253,0.0004553584,0.001703175,0.001751887,0.0005976266,0.0006171336,0.00214416,0.001294289],"category_scores_gemma":[0.00189332,0.0002736616,0.0004773485,0.0006421663,0.0007762963,0.0008553943,0.0005791903,0.001721833,0.0003592393],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002124334,"about_ca_system_score_gemma":0.002097544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05244663,"about_ca_topic_score_gemma":0.06350384,"domain_scores_codex":[0.9996802,0.00002059524,0.00002170369,0.00005343751,0.00008451774,0.0001396864],"domain_scores_gemma":[0.9991488,0.00008982314,0.0001248225,0.00003665965,0.0001980079,0.0004018644],"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":[0.00007119144,0.00007081468,0.03214434,0.00002481078,0.00001013653,0.9598989,0.0003863734,0.0001035943,0.002092885,0.000385125,0.0008802665,0.003931541],"study_design_scores_gemma":[0.00001088784,0.0001103525,0.04894046,0.00003116584,0.00001660137,0.9467488,0.0003827235,0.0003455653,0.0004237606,0.0001451463,0.002817885,0.00002665249],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9644648,0.003520348,0.002184642,0.007920172,0.0008500877,0.0001474686,0.0005067195,0.0001747266,0.02023097],"genre_scores_gemma":[0.994773,0.00100191,0.0005166085,0.001036607,0.0004351586,0.00001054028,0.0001548627,0.00001183254,0.002059503],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05244663,"threshold_uncertainty_score":0.1042827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01043328639173276,"score_gpt":0.268664857109095,"score_spread":0.2582315707173622,"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."}}