{"id":"W3217643062","doi":"10.3233/jnd-210728","title":"Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes","year":2021,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Phenotype; Disease; Enzyme replacement therapy; Clinical phenotype; Age of onset; Mutation","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":[0.0002576959,0.001837151,0.0005302342,0.0008104696,0.0006080397,0.0006464543,0.0006001819,0.001376939,0.001832346],"category_scores_gemma":[0.001077023,0.0003694829,0.0004853286,0.0007458907,0.0006994942,0.0003266089,0.0006968838,0.0006507967,0.0004968584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004453625,"about_ca_system_score_gemma":0.0002413425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006236471,"about_ca_topic_score_gemma":0.0009683518,"domain_scores_codex":[0.9997585,0.00002425602,0.00003301761,0.00008350426,0.000046402,0.0000543212],"domain_scores_gemma":[0.9994957,0.0001193069,0.0001602681,0.00003633338,0.00004187774,0.0001464654],"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":[0.0005962356,0.0001811418,0.08136895,0.0002293849,0.0001032712,0.8739071,0.0005425076,0.0005195945,0.02989868,0.000751648,0.001323415,0.01057803],"study_design_scores_gemma":[0.0001172972,0.0002309828,0.06330901,0.00003583812,0.0000597516,0.9295056,0.0001091153,0.0005684332,0.002615228,0.000509749,0.002911608,0.00002729904],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943784,0.00111126,0.001396042,0.0001682454,0.00004626273,0.00003919589,0.0003431837,0.0001092252,0.002408213],"genre_scores_gemma":[0.9974114,0.0002792471,0.001138104,0.000120435,0.00007546185,0.00001474876,0.0003366889,0.00001787653,0.0006059585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001837151,"threshold_uncertainty_score":0.006129801,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01900137613094276,"score_gpt":0.2841211011247604,"score_spread":0.2651197249938176,"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."}}