{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003132623,0.0002276006,0.0002928511,0.0002491427,0.0004006283,0.0004747914,0.000156444,0.0002340332,0.0006058242],"category_scores_gemma":[0.0005041386,0.00009955481,0.0002913062,0.0003879231,0.0002136397,0.0002703399,0.0003866559,0.0003040011,0.0002340099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004171579,"about_ca_system_score_gemma":0.0003118026,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003528557,"about_ca_topic_score_gemma":0.004361707,"domain_scores_codex":[0.9998485,0.00002204126,0.00002203147,0.00002502681,0.0000224149,0.00005994237],"domain_scores_gemma":[0.9996446,0.0000256055,0.0001093235,0.00001646968,0.00004479008,0.0001592538],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004302603,0.0002552265,0.982262,0.00002403232,0.00005270832,0.003503325,0.0006456785,0.00008309107,0.001010917,0.0000310185,0.0003836994,0.01131798],"study_design_scores_gemma":[0.0000351669,0.001688985,0.9863941,0.00003639463,0.00006661875,0.009071246,0.001309132,0.0001382003,0.0002517306,0.00003507392,0.0009586199,0.00001487883],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999396,0.0001381955,0.00002104904,0.00001885845,0.000004326418,0.000004603059,0.00007212464,0.000001267096,0.0003436057],"genre_scores_gemma":[0.9993464,0.0001727582,0.00004344762,0.00003683271,0.00001121353,0.00000495831,0.0001989728,0.000001139702,0.000184218],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003528557,"threshold_uncertainty_score":0.007016063,"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."}}