{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003907058,0.0002674348,0.0004389661,0.0002324161,0.00008398632,0.00001291312,0.0002323532,0.00007236576,0.000758391],"category_scores_gemma":[0.001867414,0.0002079261,0.0001149836,0.0005635831,0.0002727582,0.00004877997,0.0001126126,0.0004189123,0.0004672402],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009716106,"about_ca_system_score_gemma":0.0001743594,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002190052,"about_ca_topic_score_gemma":0.000001458408,"domain_scores_codex":[0.9975767,0.0001569989,0.0003107873,0.0004847044,0.0009709224,0.0004999409],"domain_scores_gemma":[0.9979309,0.00006415938,0.00007112548,0.0007547676,0.0002854466,0.0008935645],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.006592047,0.003743621,0.2270999,0.005009498,0.0009503528,0.006125302,0.001951385,0.0002365824,0.1427503,0.008077716,0.1505033,0.44696],"study_design_scores_gemma":[0.01490712,0.002969641,0.137526,0.002006548,0.001119206,0.0001666255,0.0001006173,0.00972152,0.002837895,0.003456637,0.8240411,0.001147144],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9608554,0.01941209,0.005264201,0.008534431,0.00107672,0.0008225892,0.000009901461,0.0001922458,0.00383247],"genre_scores_gemma":[0.9968942,0.0003014397,0.00007442831,0.001133504,0.0004338131,0.00002769393,0.000316088,0.00005908432,0.0007597326],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6735378,"threshold_uncertainty_score":0.8478981,"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."}}