{"id":"W4416229913","doi":"10.1016/j.ymgme.2025.109285","title":"Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus","year":2025,"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":"","funders":"Saint Mary’s Hospital Luodong; Hospital de Clínicas de Porto Alegre; Phoenix Children's Hospital; School of Medicine, University of California, Irvine; Mackay Memorial Hospital; University of Washington; Illinois Department of Public Health; National MPS Society; Centre Hospitalier pour Enfants de l'est de l'Ontario; National Center for Child Health and Development; Mayo Clinic","keywords":"Newborn screening; Enzyme replacement therapy; Mucopolysaccharidosis; Delphi method; Public health; Lysosomal storage disease; Disease; Mucopolysaccharidosis type I","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007204364,0.0003447215,0.0003592159,0.001366696,0.0007293028,0.0004961596,0.000535697,0.0008504324,0.00161621],"category_scores_gemma":[0.009569635,0.0002162589,0.0007541027,0.0007210692,0.0002794035,0.0003716493,0.00105251,0.000593479,0.000434488],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008935317,"about_ca_system_score_gemma":0.002525168,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006564663,"about_ca_topic_score_gemma":0.004898056,"domain_scores_codex":[0.9968936,0.001552489,0.0005306525,0.0002157625,0.0003849682,0.0004224884],"domain_scores_gemma":[0.9952126,0.001629049,0.0004413064,0.0002738467,0.002004844,0.0004383309],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"qualitative","study_design_scores_codex":[0.001513172,0.0003640661,0.7554148,0.000861366,0.0002282299,0.00543491,0.009141791,0.001012502,0.007808844,0.0005672465,0.007913829,0.2097393],"study_design_scores_gemma":[0.0001354578,0.0006958577,0.9475655,0.001428727,0.0002994497,0.008553676,0.01104951,0.001089391,0.00439031,0.0004543815,0.02427475,0.00006286002],"study_design_candidate":"qualitative","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9649223,0.006139915,0.004325429,0.002582916,0.0001521224,0.0009488094,0.001700415,0.00003423261,0.01919391],"genre_scores_gemma":[0.9876936,0.003195317,0.004374601,0.000500717,0.00003602506,0.0007041847,0.001859416,0.00002224408,0.001613901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007204364,"threshold_uncertainty_score":0.03810078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03811114740665026,"score_gpt":0.3518270098410768,"score_spread":0.3137158624344265,"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."}}