{"id":"W2041954226","doi":"10.1542/peds.2009-1728","title":"Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up","year":2009,"lang":"en","type":"article","venue":"PEDIATRICS","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":120,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Medicine; Enzyme replacement therapy; Mucopolysaccharidosis; Disease; Pediatrics; Lysosomal storage disease; Clinical trial; Fabry disease; Age of onset; Sibling; Natural history; Mucopolysaccharidosis I; Surgery; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000368116,0.000253376,0.0003992037,0.0003852014,0.0000664,0.0000457065,0.0002076385,0.0001362574,0.0001719607],"category_scores_gemma":[0.000257733,0.000196034,0.00008663374,0.001188433,0.00003102211,0.0001167118,0.00003812719,0.0003733547,0.0001176369],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002172335,"about_ca_system_score_gemma":0.0002295072,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002836625,"about_ca_topic_score_gemma":0.00008148437,"domain_scores_codex":[0.9975409,0.0000817919,0.0003702872,0.0004269768,0.0009676425,0.0006124378],"domain_scores_gemma":[0.9988754,0.00008457997,0.00009860283,0.0005273926,0.0001791822,0.0002348154],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006285568,0.001848759,0.9553415,0.0002083136,0.0001054842,0.0004071401,0.003078184,0.00008142561,0.0009468688,0.00009418182,0.0180018,0.01360075],"study_design_scores_gemma":[0.07748018,0.01761015,0.8879949,0.0002339137,0.0003308026,0.0001055989,0.002433788,0.00326338,0.002609635,0.0004856862,0.006036885,0.001415033],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920332,0.001525947,0.00008495738,0.002191102,0.00008112107,0.001342133,0.000005163476,0.0001270077,0.00260941],"genre_scores_gemma":[0.9949013,0.0008644993,0.00047227,0.0007004484,0.0002110624,0.00007044814,0.00003873761,0.00004196882,0.002699279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07119462,"threshold_uncertainty_score":0.7994034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01788104090809372,"score_gpt":0.2807457764305202,"score_spread":0.2628647355224265,"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."}}