{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002184731,0.0001002134,0.0002787025,0.0001949253,0.00004931817,0.000006279257,0.00006859761,0.00004806518,0.0001122268],"category_scores_gemma":[0.00009065319,0.00009396771,0.0000328366,0.0003660813,0.0001008178,0.00001471476,0.0002122431,0.0001830736,0.00000102109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001461528,"about_ca_system_score_gemma":0.00006794016,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001730334,"about_ca_topic_score_gemma":0.00001572524,"domain_scores_codex":[0.9990447,0.0001002563,0.0001798897,0.0002317335,0.0002392344,0.0002041916],"domain_scores_gemma":[0.9995971,0.00003104691,0.00004781914,0.0001596674,0.00008146329,0.00008293561],"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":[0.0005252786,0.0002492692,0.01731883,0.00009393987,0.0001807165,0.0003359422,0.001855414,0.0001992393,0.9642697,0.007605236,0.0004306981,0.006935724],"study_design_scores_gemma":[0.02469564,0.005582784,0.70703,0.00008279341,0.0006676416,0.001167919,0.008634524,0.01409474,0.1815663,0.01917307,0.03592854,0.001376025],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9783277,0.0196505,0.0001792408,0.00122926,0.00004616275,0.0003108303,0.00002175139,0.000005855256,0.0002287159],"genre_scores_gemma":[0.9970631,0.001031625,0.001115222,0.0005913187,0.000005055944,0.00002353188,0.00001701069,0.000020091,0.0001330537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7827034,"threshold_uncertainty_score":0.3831892,"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."}}