{"id":"W2001733646","doi":"10.1007/s10545-011-9436-z","title":"Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America","year":2012,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Instituto Nacional de Genética Médica Populacional; Conselho Nacional de Desenvolvimento Científico e Tecnológico; McGill University","keywords":"Human genetics; Medical genetics; Latin Americans; Newborn screening; Medicine; Population; Genetics; Biology; Environmental health; Political science; Gene","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":[0.006722506,0.0004793557,0.0009243429,0.002631833,0.0005518994,0.002549223,0.001501608,0.001502722,0.006545314],"category_scores_gemma":[0.008424186,0.0002640855,0.0006438911,0.003625158,0.002390767,0.00192386,0.001800769,0.001681212,0.0006001631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005173328,"about_ca_system_score_gemma":0.007022165,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02827357,"about_ca_topic_score_gemma":0.01396118,"domain_scores_codex":[0.9982134,0.0008439579,0.0001780309,0.0002692139,0.0002495908,0.0002459308],"domain_scores_gemma":[0.9924881,0.003394059,0.001079441,0.0003305212,0.001860999,0.0008468233],"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":[0.0003096224,0.0001618192,0.1382432,0.004407834,0.0001671712,0.001252954,0.001987756,0.0003986244,0.001573748,0.0282623,0.03096716,0.7922678],"study_design_scores_gemma":[0.0001079607,0.0003512284,0.2840888,0.01687945,0.0004057618,0.004934091,0.00673194,0.0009812808,0.0007733254,0.01539179,0.6692068,0.000147631],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.03071333,0.7885584,0.003213184,0.1567594,0.001056464,0.00004792897,0.001277105,0.0003398066,0.01803434],"genre_scores_gemma":[0.2340017,0.7186254,0.007739135,0.03216757,0.002458519,0.0001850994,0.001670668,0.000135636,0.003016144],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.02827357,"threshold_uncertainty_score":0.05621803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02459276778839604,"score_gpt":0.3365297221825174,"score_spread":0.3119369543941214,"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."}}