{"id":"W2125080524","doi":"10.1542/peds.2006-0588","title":"The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported","year":2006,"lang":"en","type":"review","venue":"PEDIATRICS","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":200,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Hospital for Sick Children","keywords":"Medicine; Gangliosidosis; Pediatrics; Cohort; Sandhoff disease; Hexosaminidase; Natural history; Age of onset; Juvenile; Wasting; Disease; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000849883,0.0005068629,0.002781794,0.0003481256,0.00005796623,0.00002333606,0.0003743929,0.0004074506,0.00006136128],"category_scores_gemma":[0.005904331,0.0002862682,0.000727171,0.001534947,0.0001850641,0.00008355897,0.000182047,0.0009953813,0.000005075568],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004940985,"about_ca_system_score_gemma":0.004564449,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001918625,"about_ca_topic_score_gemma":0.00005902891,"domain_scores_codex":[0.9959806,0.0002746873,0.001790275,0.000531643,0.0009742713,0.0004484849],"domain_scores_gemma":[0.9952719,0.001150498,0.001663544,0.0009723877,0.0007095516,0.0002321261],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005611818,0.00008198941,0.00009309383,0.3695766,0.0001546298,0.001391272,0.00008070697,6.282802e-9,2.575689e-7,0.000005682036,0.3349783,0.2935814],"study_design_scores_gemma":[0.000367509,0.0002259535,0.00002401393,0.06672908,0.004591993,0.00232633,0.000006211835,5.766959e-7,3.907622e-7,0.00000286173,0.9254886,0.0002364968],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00002833409,0.9966243,8.133704e-7,0.0001392144,0.0004638247,0.002152397,0.00007128005,0.00003584654,0.0004839911],"genre_scores_gemma":[0.000005603622,0.97547,0.0001372054,0.000101742,0.0006638694,0.00007603264,0.0003753201,0.00008393177,0.02308631],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.5905103,"threshold_uncertainty_score":0.9999589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04582036908723945,"score_gpt":0.3440694401166896,"score_spread":0.2982490710294501,"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."}}