{"id":"W4402421071","doi":"10.1002/jimd.12790","title":"Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ <scp>IT</scp> on cognitive function in siblings with neuronopathic mucopolysaccharidosis <scp>II</scp>","year":2024,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Sanofi Genzyme; Idorsia Pharmaceuticals; National Institute for Health and Care Research; Horizon Therapeutics; Moderna; JCR Pharmaceuticals; Sangamo Therapeutics; Denali Therapeutics; Inventiva Pharma; National Center for Advancing Translational Sciences; Agios Pharmaceuticals; Mallinckrodt Pharmaceuticals; REGENXBIO; BioMarin Pharmaceutical; Alexion Pharmaceuticals; Audentes Therapeutics; Aeglea BioTherapeutics; Eli Lilly and Company; AstraZeneca; Chiesi Farmaceutici; Sanofi; PTC Therapeutics; Ultragenyx Pharmaceutical","keywords":"Mucopolysaccharidosis type II; Hunter syndrome; Enzyme replacement therapy; Pediatrics; Sibling; Medicine; Psychology; Internal medicine; Disease; Developmental psychology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006635984,0.0004362084,0.0008589677,0.0001569384,0.0001649221,0.0002811299,0.000347385,0.0004124994,0.0009053714],"category_scores_gemma":[0.0008293086,0.0001506346,0.0004811383,0.000119029,0.0003755716,0.0003079975,0.0001703015,0.0006115075,0.0001367177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004929143,"about_ca_system_score_gemma":0.0007458772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009405208,"about_ca_topic_score_gemma":0.002793501,"domain_scores_codex":[0.9997035,0.0001433028,0.00002827575,0.00004872843,0.00003656021,0.0000396585],"domain_scores_gemma":[0.999669,0.00009042553,0.00007240703,0.00002208317,0.00001997024,0.000126071],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"observational","study_design_scores_codex":[0.5734827,0.03805357,0.02736078,0.0007657855,0.001381905,0.001036069,0.0005148773,0.002185972,0.08629494,0.0003651817,0.001299617,0.2672585],"study_design_scores_gemma":[0.08938719,0.8215295,0.066141,0.00008839431,0.0008016125,0.0006525416,0.0001654412,0.001634095,0.01653155,0.0002309034,0.002800225,0.0000375356],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985923,0.0006350405,0.00009533595,0.00005578734,0.00001582382,0.0001238845,0.00009950728,0.000007343588,0.000374908],"genre_scores_gemma":[0.9985917,0.000334562,0.0003798839,0.0000926885,0.00001838972,0.0001559942,0.0001606562,0.000002109436,0.0002639744],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009405208,"threshold_uncertainty_score":0.003576398,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03349641021679093,"score_gpt":0.303973353846625,"score_spread":0.270476943629834,"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."}}