{"id":"W4404488788","doi":"10.1016/j.ymgme.2024.108612","title":"High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; Foundation for the National Institutes of Health","keywords":"Glycosaminoglycan; Mucopolysaccharidosis; Mucopolysaccharidosis type II; Mucopolysaccharidosis type I; Endogeny; Enzyme replacement therapy; Enzyme; Newborn screening; Chemistry; Medicine; Biochemistry; Internal medicine; 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":[0.001012908,0.0006964895,0.0006227493,0.00155157,0.0003156541,0.0007699332,0.0005422478,0.0006677028,0.0006978019],"category_scores_gemma":[0.001734768,0.000391947,0.0004532877,0.0005977346,0.0004130971,0.0002062621,0.0004938829,0.0007765504,0.0004282758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005140422,"about_ca_system_score_gemma":0.0005252493,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002347385,"about_ca_topic_score_gemma":0.003559237,"domain_scores_codex":[0.9983838,0.0003412188,0.00007919359,0.0003478621,0.0006920077,0.0001560005],"domain_scores_gemma":[0.9991768,0.0003307293,0.0001118649,0.0001084284,0.0001988998,0.00007322775],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000664654,0.0001155373,0.06289784,0.0001813668,0.0001613979,0.001367287,0.0002194019,0.0008132576,0.8916718,0.000796877,0.0006666747,0.04044383],"study_design_scores_gemma":[0.00004084046,0.0006577087,0.09624748,0.00005082793,0.0002347581,0.009030188,0.0001237935,0.007164542,0.8820136,0.0005120189,0.003878045,0.00004617998],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.844741,0.005468448,0.1401071,0.0004713006,0.0001334615,0.0001840544,0.001665427,0.001274652,0.005954447],"genre_scores_gemma":[0.9453856,0.001375852,0.04967957,0.0003316209,0.00003182973,0.00007300664,0.0006271547,0.000120698,0.002374639],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002347385,"threshold_uncertainty_score":0.005356848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02135372802490656,"score_gpt":0.2927974738236967,"score_spread":0.2714437457987902,"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."}}