{"id":"W4401025762","doi":"10.1590/2326-4594-jiems-2023-0016","title":"Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience","year":2024,"lang":"en","type":"article","venue":"Journal of Inborn Errors of Metabolism and Screening","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Trinity College","funders":"Fogarty International Center","keywords":"Hurler syndrome; Mucopolysaccharidosis type I; Stem cell; Medicine; Transplantation; Mucopolysaccharidosis; Endocrine system; Haematopoiesis; Cardiorespiratory fitness; Immunology; Internal medicine; Disease; Biology; Hormone; Enzyme replacement therapy; Genetics","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":[0.0002827382,0.0001794264,0.0005217624,0.0003300987,0.0000781346,0.00005215794,0.0001188155,0.00005644244,0.00004391631],"category_scores_gemma":[0.00004752793,0.0001051954,0.0001026129,0.0003514581,0.0001658858,0.0003532933,0.00003969024,0.000401783,9.362047e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001755461,"about_ca_system_score_gemma":0.0001133378,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007046182,"about_ca_topic_score_gemma":0.00001072685,"domain_scores_codex":[0.9983043,0.00009265195,0.0004960233,0.0002020732,0.0006901132,0.0002148578],"domain_scores_gemma":[0.9989821,0.0001415377,0.0001592326,0.0001352117,0.0004424848,0.0001394121],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009914878,0.0001010578,0.9910198,0.0004419999,0.0002070561,0.000928249,0.002571391,0.0000234041,0.0006641971,0.00001929195,0.00003925096,0.002992798],"study_design_scores_gemma":[0.002353354,0.0003608021,0.9926957,0.0004765311,0.0002415052,0.00133334,0.001780538,0.00003471999,0.000578649,0.00000292705,0.00003127847,0.0001105867],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903805,0.008536882,0.0002195587,0.0003530888,0.0001948307,0.0002460779,0.00002104485,0.000007072253,0.00004098057],"genre_scores_gemma":[0.9989928,0.0005075903,0.0002788274,0.00009059833,0.00004027237,0.000006745972,0.00000546589,0.00002268901,0.00005500315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008612343,"threshold_uncertainty_score":0.4289743,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02005996403779344,"score_gpt":0.2770141949084286,"score_spread":0.2569542308706352,"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."}}