{"id":"W2134704141","doi":"10.1016/j.ymgme.2014.12.299","title":"Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II","year":2014,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Center for Research Resources; National Center for Advancing Translational Sciences; National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health","keywords":"Corpus callosum; White matter; Neuropsychology; Abnormality; Mucopolysaccharidosis type I; Psychology; Neuroimaging; Cognition; Neuropsychological assessment; Medicine; Atrophy; Disease; Audiology; Neuroscience; Internal medicine; Pediatrics; Magnetic resonance imaging; Psychiatry; Enzyme replacement therapy; 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":[0.0005277439,0.00138705,0.0006215969,0.002294126,0.00113268,0.0006313586,0.0008044323,0.0007949167,0.003142839],"category_scores_gemma":[0.003596091,0.000350698,0.0004181247,0.001292,0.0009946878,0.0009674564,0.0006127432,0.0008344424,0.0003976437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006606826,"about_ca_system_score_gemma":0.001117987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01314089,"about_ca_topic_score_gemma":0.007789251,"domain_scores_codex":[0.9997113,0.0000350118,0.00005365468,0.00006227614,0.00006591681,0.00007182173],"domain_scores_gemma":[0.9986911,0.0003159958,0.0003393815,0.00007807762,0.0002108828,0.000364492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001568961,0.0008877895,0.7965236,0.0001073084,0.0001808394,0.180196,0.001116547,0.0006932711,0.007667459,0.0007079169,0.001234727,0.00911552],"study_design_scores_gemma":[0.000058079,0.0005295181,0.8320895,0.00004226522,0.0001301661,0.1626733,0.001051144,0.0008552719,0.000761655,0.001140673,0.000625169,0.00004327218],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928175,0.0002985674,0.0001608742,0.0003523132,0.00001655299,0.00004682368,0.0004644261,0.00001369138,0.005829235],"genre_scores_gemma":[0.9985541,0.0001929126,0.0002003591,0.0001348093,0.00006782751,0.00001792841,0.0004094814,0.000004653391,0.0004179342],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01314089,"threshold_uncertainty_score":0.02612877,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01348642888535782,"score_gpt":0.2842529690211933,"score_spread":0.2707665401358355,"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."}}