{"id":"W2125169621","doi":"10.2174/1566524014666141010131649","title":"Late-Onset Glycogen Storage Disease Type 2","year":2014,"lang":"en","type":"article","venue":"Current Molecular Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Hospital","funders":"","keywords":"Enzyme replacement therapy; Glycogen storage disease type II; Disease; Medicine; Myopathy; Genetic enhancement; Lysosomal storage disease; Phenotype; Glycogen storage disease; Glycogen; Internal medicine; Biology; Endocrinology; Gene; Genetics","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":[0.0002342372,0.0005368922,0.0005060285,0.000240244,0.0002451357,0.0003130772,0.0002497368,0.0003934291,0.002988406],"category_scores_gemma":[0.000427368,0.00008308699,0.0003016764,0.0002623633,0.0001534064,0.0002146852,0.0002258419,0.0002757743,0.000969158],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002437671,"about_ca_system_score_gemma":0.0002381801,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006415161,"about_ca_topic_score_gemma":0.0007181602,"domain_scores_codex":[0.9999286,0.00001426235,0.000009304775,0.00001828292,0.00001118521,0.00001832529],"domain_scores_gemma":[0.9998833,0.00001717696,0.00002726309,0.000007443575,0.00001753375,0.00004722095],"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":[0.006663381,0.0007822973,0.2699948,0.001708686,0.0002704158,0.2860788,0.0006277874,0.0004948304,0.2232036,0.002865573,0.01317715,0.1941327],"study_design_scores_gemma":[0.000313713,0.003238576,0.2526842,0.0003749432,0.0002374597,0.6598227,0.0004126763,0.001239441,0.03020133,0.001590526,0.0498196,0.00006486526],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9641844,0.01342367,0.006438043,0.0007352001,0.0002368061,0.0001162389,0.001157673,0.0002801445,0.01342787],"genre_scores_gemma":[0.9828886,0.003249923,0.001843008,0.0007036952,0.0001242191,0.00004310102,0.001667539,0.00004236148,0.009437673],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002988406,"threshold_uncertainty_score":0.009997189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0276662494594364,"score_gpt":0.3362566380007842,"score_spread":0.3085903885413478,"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."}}