{"id":"W4205435603","doi":"10.1016/j.ymgme.2022.01.001","title":"Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I","year":2022,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Institute on Drug Abuse; National Institute of Mental Health; National Institute on Alcohol Abuse and Alcoholism; Center for Neurobehavioral Development; University of California, San Francisco; National Institutes of Health; Harvard University; Sanofi Genzyme; National MPS Society; BioClinica; University of Minnesota; National Center for Research Resources; University of Pennsylvania; Sanofi; U.S. Department of Veterans Affairs","keywords":"Corpus callosum; White matter; Mucopolysaccharidosis type II; Mucopolysaccharidosis type I; Neurocognitive; Magnetic resonance imaging; Medicine; Brain morphometry; Choroid plexus; Pathology; Cardiology; Internal medicine; Neuroscience; Psychology; Disease; Cognition; Central nervous system; Radiology; Enzyme replacement therapy","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":[0.0002637103,0.0004700378,0.0001936326,0.00103418,0.000148088,0.0003730306,0.0001732807,0.0002627246,0.00183687],"category_scores_gemma":[0.001221507,0.0002738052,0.0001081477,0.0002964505,0.0005482814,0.0002978576,0.0002978792,0.0002882899,0.0002072188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001710834,"about_ca_system_score_gemma":0.0001549951,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001592304,"about_ca_topic_score_gemma":0.001658648,"domain_scores_codex":[0.9999031,0.00002362449,0.00001440881,0.00001754656,0.00002240467,0.00001889644],"domain_scores_gemma":[0.9995632,0.00007937278,0.0001712481,0.00002427771,0.00006929484,0.00009258333],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.01025945,0.0005792721,0.3042817,0.0003881483,0.0005461126,0.03343825,0.001465232,0.003332012,0.5980545,0.001452034,0.001725372,0.04447791],"study_design_scores_gemma":[0.0000700132,0.0008238895,0.9651059,0.00001894279,0.00008326145,0.02079601,0.0004372084,0.001750278,0.009727786,0.0007582108,0.0004017393,0.00002680206],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998357,0.0001067783,0.000389237,0.00003985865,0.000004307371,0.000007042686,0.0001384261,0.00001289388,0.0009443697],"genre_scores_gemma":[0.9993055,0.00007012415,0.0001890851,0.0000131491,0.000006473889,0.000003099935,0.00009950334,0.000009532559,0.0003035597],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00183687,"threshold_uncertainty_score":0.006144941,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01790294309592219,"score_gpt":0.2991202626035739,"score_spread":0.2812173195076517,"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."}}