{"id":"W4413106915","doi":"10.1542/peds.2025-073188","title":"Evidence Regarding Metachromatic Leukodystrophy Newborn Screening","year":2025,"lang":"en","type":"article","venue":"PEDIATRICS","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario","funders":"University of Washington; New York State Department of Health - Wadsworth Center; Children's Hospital of Philadelphia; New York State Department of Health","keywords":"Metachromatic leukodystrophy; Medicine; Newborn screening; Arylsulfatase A; Pediatrics; Sibling; Leukodystrophy; Population; Phenotype; Lysosomal storage disease; Internal medicine; Disease; Pathology; Gene; 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":[0.01533679,0.0006038633,0.00114782,0.007453782,0.0006919994,0.002668585,0.002362513,0.003345287,0.0138585],"category_scores_gemma":[0.09659166,0.0003980453,0.0008307256,0.007049435,0.002276947,0.001837807,0.001347172,0.002193124,0.001480223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001159342,"about_ca_system_score_gemma":0.002206277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005041311,"about_ca_topic_score_gemma":0.003958764,"domain_scores_codex":[0.9864349,0.005774845,0.002450867,0.001706837,0.003098359,0.0005341829],"domain_scores_gemma":[0.7651852,0.1894876,0.01740937,0.003334017,0.02185246,0.002731387],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.006887163,0.0003716926,0.4256383,0.03965358,0.003304688,0.01058281,0.002563032,0.0006923013,0.003420911,0.02898756,0.04425085,0.4336472],"study_design_scores_gemma":[0.0005964331,0.002451672,0.3792425,0.08608095,0.007134483,0.03457763,0.004476735,0.0006324486,0.002781549,0.01254502,0.4693234,0.0001571829],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.114216,0.6711041,0.003139641,0.0882125,0.003416339,0.0001892386,0.005754452,0.00007417683,0.1138937],"genre_scores_gemma":[0.5360509,0.4190196,0.0039391,0.03036678,0.004298198,0.0001559271,0.003410009,0.00006362586,0.002695919],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01533679,"threshold_uncertainty_score":0.0811097,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05617450312591609,"score_gpt":0.3427999311739756,"score_spread":0.2866254280480595,"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."}}