{"id":"W2078368985","doi":"10.4236/ojgen.2013.32a3007","title":"Diagnostic challenges in Salla disease","year":2013,"lang":"en","type":"article","venue":"Open Journal of Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Shared Health; University of Manitoba","funders":"","keywords":"Sialic acid; Disease; Medicine; Magnetic resonance imaging; Pathology; Biology; Genetics; Radiology","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":[0.006922364,0.001026525,0.001399209,0.003234704,0.00252852,0.002026604,0.003136231,0.004343493,0.00188515],"category_scores_gemma":[0.02024192,0.0006052687,0.0007477956,0.0008607174,0.002808729,0.003294559,0.002562608,0.005368159,0.001176755],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001388343,"about_ca_system_score_gemma":0.001508044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002571347,"about_ca_topic_score_gemma":0.00291095,"domain_scores_codex":[0.9964828,0.001141592,0.0005473405,0.0003336073,0.0009292701,0.0005653104],"domain_scores_gemma":[0.9907381,0.00477438,0.000727381,0.0004556638,0.001979965,0.001324572],"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":[0.000574272,0.0002711948,0.09344949,0.00104503,0.0001040225,0.7037222,0.004759291,0.001982004,0.01269968,0.009281281,0.03693102,0.1351806],"study_design_scores_gemma":[0.00005400443,0.0001951513,0.01117645,0.001401322,0.00007675907,0.9327474,0.006717792,0.003117761,0.003288615,0.01527043,0.0258732,0.00008105897],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5262372,0.112821,0.07772547,0.2251958,0.009088739,0.0006975094,0.0007700268,0.001397087,0.04606713],"genre_scores_gemma":[0.8955112,0.02625154,0.04810847,0.01979308,0.007973139,0.0001709203,0.000385563,0.0001286406,0.001677384],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006922364,"threshold_uncertainty_score":0.03660941,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08519917223333187,"score_gpt":0.3546455110908947,"score_spread":0.2694463388575629,"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."}}