{"id":"W4390933359","doi":"10.15690/vsp.v22i6.2701","title":"Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report","year":2024,"lang":"en","type":"article","venue":"Вопросы современной педиатрии","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute","funders":"","keywords":"Hurler syndrome; Medicine; Mucopolysaccharidosis I; Enzyme replacement therapy; Mucopolysaccharidosis type I; Hematopoietic stem cell transplantation; Mucopolysaccharidosis; Hunter syndrome; Disease; Pediatrics; Lysosomal storage disease; Internal medicine","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":[0.000408056,0.000310544,0.0005818836,0.0003834763,0.0001333632,0.00006014444,0.0001241092,0.0002193356,0.0005456442],"category_scores_gemma":[0.0002821761,0.0002410368,0.0003386998,0.0007329528,0.0001093311,0.0002365562,0.0000652888,0.0001969469,0.0001190117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005053496,"about_ca_system_score_gemma":0.0005238456,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004402909,"about_ca_topic_score_gemma":0.00007738175,"domain_scores_codex":[0.9976721,0.00003542548,0.0006345956,0.0006018185,0.0005506432,0.0005053544],"domain_scores_gemma":[0.9983893,0.000196326,0.0001210912,0.0006382531,0.0004218613,0.0002331862],"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":[0.005051558,0.009277907,0.02338116,0.01181047,0.006941322,0.6121072,0.007154969,0.00007812666,0.03213422,0.03913513,0.05934757,0.1935804],"study_design_scores_gemma":[0.02047806,0.02219058,0.007971103,0.001964532,0.002696153,0.7406806,0.003325692,0.01189864,0.049723,0.01140137,0.1255676,0.00210268],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875437,0.002865986,0.0006404639,0.001536393,0.0006480215,0.002309331,0.0001002244,0.000247061,0.004108836],"genre_scores_gemma":[0.9874928,0.0001518175,0.0005878054,0.00007173494,0.00009374809,0.0002610638,0.0003180453,0.00009083896,0.01093214],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1914777,"threshold_uncertainty_score":0.9829196,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03955294082968436,"score_gpt":0.3557647371735728,"score_spread":0.3162117963438884,"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."}}