{"id":"W4408101218","doi":"10.1136/pn-2024-004506","title":"Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy","year":2025,"lang":"en","type":"article","venue":"Practical Neurology","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Oculopharyngeal muscular dystrophy; Dysarthria; Medicine; Dysphagia; Ptosis; Pediatrics; Disease; Muscular dystrophy; Pathology; Internal medicine; Audiology; Surgery","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":[0.0001799906,0.0009751261,0.00051806,0.0007770649,0.0005865851,0.0005746358,0.00035976,0.001328139,0.001072612],"category_scores_gemma":[0.001305847,0.0002854262,0.000285448,0.0004503716,0.0005651364,0.0007510273,0.0005782003,0.0007741952,0.0004987472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003668829,"about_ca_system_score_gemma":0.0002984375,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00145175,"about_ca_topic_score_gemma":0.00193347,"domain_scores_codex":[0.9998478,0.0000189249,0.00001548153,0.00003915138,0.00002135482,0.00005735386],"domain_scores_gemma":[0.9996247,0.000105826,0.0001126334,0.00002610892,0.00002614537,0.0001045923],"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":[0.0001203912,0.00003206421,0.01471458,0.00005064963,0.000004723665,0.9747632,0.0002871498,0.0001351615,0.006645433,0.0003076692,0.0002336723,0.002705233],"study_design_scores_gemma":[0.00001060504,0.0001224095,0.01060053,0.00001748253,0.00000870343,0.9864751,0.0001267861,0.0002483749,0.001270704,0.0002242892,0.0008880077,0.000007129241],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.982532,0.002423075,0.002767605,0.000477907,0.00007234675,0.00009531256,0.0002038138,0.000121912,0.01130608],"genre_scores_gemma":[0.9962171,0.000875108,0.0009830011,0.0002911052,0.0001249741,0.00001172597,0.00009137267,0.00001651489,0.001389168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00145175,"threshold_uncertainty_score":0.003588259,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02312334350026948,"score_gpt":0.3504097157995963,"score_spread":0.3272863722993269,"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."}}