{"id":"W2055335510","doi":"10.1002/iub.284","title":"Therapy for lysosomal storage disorders","year":2009,"lang":"en","type":"review","venue":"IUBMB Life","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":138,"is_retracted":false,"has_abstract":true,"ca_institutions":"Tellabs (Canada)","funders":"","keywords":"Lysosomal storage disorders; Substrate reduction therapy; Enzyme replacement therapy; Lysosomal storage disease; Genetic enhancement; Orphan drug; Medicine; Disease; Fabry disease; Hematopoietic stem cell transplantation; Intensive care medicine; Bioinformatics; Internal medicine; Biology; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000406066,0.0007542712,0.002788972,0.0004472825,0.0001777514,0.00007739644,0.0005495838,0.0007017631,0.0004146778],"category_scores_gemma":[0.0006602353,0.0005736223,0.001603188,0.0006462632,0.0001373934,0.00009644414,0.00007529489,0.0007893757,0.0003340233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002950479,"about_ca_system_score_gemma":0.001580976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003258983,"about_ca_topic_score_gemma":0.00001176953,"domain_scores_codex":[0.9964207,0.0001804806,0.0007951675,0.0008832763,0.0007850986,0.000935256],"domain_scores_gemma":[0.9976345,0.0003628628,0.0002895722,0.0009527419,0.0001623754,0.0005979355],"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":[0.0001496835,0.000404357,0.00001553276,0.008084509,0.0004230095,0.00003141419,0.00004212909,3.565222e-7,4.601218e-7,0.0001243403,0.01910008,0.9716241],"study_design_scores_gemma":[0.002142231,0.0008852709,0.00005259156,0.002895407,0.0004656562,0.00003865904,0.00002084722,0.00001230618,4.267909e-7,0.0001251112,0.9928265,0.0005349584],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00002699973,0.9882765,0.0002184131,0.0006279164,0.0003161823,0.005689168,0.0001097018,0.0002061108,0.004529015],"genre_scores_gemma":[0.00003702728,0.9917592,0.0003843344,0.0007699503,0.001099421,0.0008913748,0.0005401595,0.0002279669,0.004290527],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9737265,"threshold_uncertainty_score":0.9996715,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07941979709710534,"score_gpt":0.3984812059653671,"score_spread":0.3190614088682618,"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."}}