{"id":"W2913945602","doi":"10.1016/j.ymgme.2018.12.326","title":"Galsulfase treatment in two siblings with mucopolysaccharidosis type VI: A case report","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Mucopolysaccharidosis type I; Mucopolysaccharidosis; Pediatrics; Medicine; Mucopolysaccharidosis type II; Internal medicine; Enzyme replacement therapy; Disease","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":[0.0005304628,0.003194678,0.001646487,0.002948651,0.003706305,0.001827928,0.002184481,0.007593225,0.003472546],"category_scores_gemma":[0.004311569,0.002396452,0.002452314,0.001801821,0.003320126,0.001960302,0.002345223,0.004080961,0.001294997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001784755,"about_ca_system_score_gemma":0.001361411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002884984,"about_ca_topic_score_gemma":0.002133109,"domain_scores_codex":[0.9987558,0.0001454976,0.0001830723,0.000364851,0.0001865992,0.0003641147],"domain_scores_gemma":[0.9968767,0.001031523,0.0006539862,0.0002857842,0.0001638466,0.0009881868],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001454294,0.00002360748,0.001241651,0.000007978996,0.000004865249,0.9979271,0.00008765457,0.00001549504,0.0002623176,0.00005094851,0.00005756987,0.0003062712],"study_design_scores_gemma":[0.00001080847,0.00003940696,0.001524263,0.000004075688,0.00001516854,0.9976358,0.00007647176,0.00007992632,0.0003789537,0.0000488256,0.0001785163,0.000007636306],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9751357,0.003267259,0.004286186,0.003902343,0.0005418704,0.0001787717,0.0003576179,0.0002748413,0.01205546],"genre_scores_gemma":[0.9927579,0.000930477,0.001754855,0.0008971838,0.0005866307,0.00004018156,0.0001123852,0.00007002665,0.002850274],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007593225,"threshold_uncertainty_score":0.01294941,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01553640081378335,"score_gpt":0.3098456044284456,"score_spread":0.2943092036146622,"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."}}