{"id":"W4414823749","doi":"10.1016/j.nmd.2025.105741","title":"317PPOM-005: a global, prospective, observational registry of people living with Pompe disease","year":2025,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Penticton Regional Hospital","funders":"","keywords":"Enzyme replacement therapy; Observational study; Disease; Natural history; Quality of life (healthcare); Clinical trial; Cohort","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":[0.0007243079,0.0007932361,0.000967185,0.001709416,0.001067915,0.001224829,0.0008829903,0.0007234394,0.003123346],"category_scores_gemma":[0.001875434,0.0006125336,0.0008057756,0.003615745,0.0003596163,0.001410489,0.002144772,0.001062335,0.001308619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007069919,"about_ca_system_score_gemma":0.00131018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02559121,"about_ca_topic_score_gemma":0.02567383,"domain_scores_codex":[0.999313,0.0001451534,0.00007435447,0.0002445965,0.00008844804,0.0001345119],"domain_scores_gemma":[0.9987308,0.0001193996,0.0003918592,0.0001833168,0.0002094137,0.0003651571],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000445103,0.00009270892,0.9948058,0.00005538791,0.0001858674,0.0002057232,0.0001561131,0.00004187623,0.0003295429,0.00006480514,0.002447307,0.001169875],"study_design_scores_gemma":[0.0001730296,0.0001754707,0.9965238,0.00004144252,0.0001288944,0.0005282072,0.0004258223,0.0001821292,0.00007651345,0.00007325403,0.001655711,0.0000155913],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"protocol","genre_scores_codex":[0.9315251,0.0003507103,0.0006444665,0.0001249489,0.00003787234,0.0002506053,0.0649015,0.00004416069,0.002120687],"genre_scores_gemma":[0.8788963,0.0005352657,0.00112276,0.0004562321,0.0001053603,0.000898512,0.1163859,0.00005765762,0.001542083],"genre_candidate":"protocol","genre_consensus":null,"teacher_disagreement_score":0.02559121,"threshold_uncertainty_score":0.05088454,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01272430055871381,"score_gpt":0.2833626732332313,"score_spread":0.2706383726745175,"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."}}