{"id":"W2401849032","doi":"10.1038/gim.2016.55","title":"Is it Fabry disease?","year":2016,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":99,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Globotriaosylceramide; Fabry disease; Alpha-galactosidase; Disease; Enzyme replacement therapy; Medicine; Biology; Internal medicine","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":[0.0008131152,0.001024732,0.002171325,0.003263087,0.000319998,0.001630047,0.0007104097,0.001859983,0.004422922],"category_scores_gemma":[0.001640715,0.0003003817,0.0005358533,0.002731636,0.0007717976,0.002241699,0.001166258,0.001899722,0.001420374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008480343,"about_ca_system_score_gemma":0.001996877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00133678,"about_ca_topic_score_gemma":0.003550277,"domain_scores_codex":[0.9997172,0.00005912223,0.00006471868,0.00004349836,0.00008291455,0.00003253465],"domain_scores_gemma":[0.9993839,0.0003121512,0.0001157774,0.00001649682,0.0001056313,0.00006588046],"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":[0.0001394054,0.00003617347,0.000464976,0.01926581,0.0001949417,0.0007589686,0.00008677755,0.0002581268,0.0006698698,0.004077264,0.07380966,0.900238],"study_design_scores_gemma":[0.0000579192,0.0000465865,0.0008628747,0.0119897,0.0004324167,0.003818754,0.0001536553,0.00007304482,0.0001584141,0.003321978,0.9790581,0.00002651181],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00004406734,0.9985602,0.00004327269,0.0005658393,0.000316786,0.000001229062,0.00001016702,0.000003514304,0.0004548683],"genre_scores_gemma":[0.0006544962,0.9974739,0.0001158605,0.000708828,0.0006355396,0.000002660714,0.0000244413,0.000001253235,0.000382989],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004422922,"threshold_uncertainty_score":0.0147962,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1582595687057428,"score_gpt":0.4647422256490444,"score_spread":0.3064826569433016,"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."}}