{"id":"W2473379876","doi":"10.1017/cjn.2016.29","title":"Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report","year":2016,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Neurological Institute and Hospital","funders":"","keywords":"Medicine; Muscle biopsy; Biopsy; Genetic testing; Disease; Glycogen storage disease type II; Pathology; Limb-girdle muscular dystrophy; Internal medicine; Enzyme replacement therapy; Mutation; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.001652318,0.0008549482,0.0004412315,0.001688328,0.001534505,0.0007801288,0.001243881,0.002109926,0.002162841],"category_scores_gemma":[0.01020054,0.0003848387,0.000649463,0.0005567579,0.001177055,0.001062907,0.0009893883,0.001869247,0.001328976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006305243,"about_ca_system_score_gemma":0.0008699877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002594916,"about_ca_topic_score_gemma":0.003512616,"domain_scores_codex":[0.9987915,0.000238101,0.0002299994,0.0001632798,0.0003247319,0.0002524096],"domain_scores_gemma":[0.9950083,0.002147176,0.0006807261,0.0005014943,0.001023961,0.0006382482],"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":[0.0002988568,0.000134462,0.3251734,0.0001437186,0.00004457871,0.651375,0.0009584448,0.0001164168,0.01261646,0.0002098657,0.0007734128,0.008155429],"study_design_scores_gemma":[0.00004476249,0.0003554743,0.09508734,0.0001723198,0.0001212514,0.8855472,0.001754086,0.000612798,0.01165211,0.0002258173,0.004398921,0.00002793724],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9849638,0.003158748,0.002549416,0.001587798,0.0002745576,0.0001469129,0.0001998848,0.00008265262,0.007036235],"genre_scores_gemma":[0.9959403,0.0007266066,0.001708534,0.0007364941,0.0002441689,0.00001979843,0.0001772057,0.00001605636,0.0004307955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002594916,"threshold_uncertainty_score":0.008738399,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08053837383503995,"score_gpt":0.3444561102861031,"score_spread":0.2639177364510632,"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."}}