{"id":"W1986274067","doi":"10.1016/j.ymgme.2013.03.003","title":"Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency","year":2013,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto","funders":"","keywords":"Dried blood; Spots; Newborn screening; Medicine; Internal medicine; Methyltransferase; Endocrinology; Pediatrics; Chemistry; Pathology; Biochemistry; Chromatography","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":[0.0006341666,0.0005041103,0.0007940006,0.0004854889,0.0004535226,0.0004601931,0.0003951935,0.0008798941,0.0009194831],"category_scores_gemma":[0.003454679,0.0001759381,0.0005554339,0.0006048682,0.0003559999,0.0003913092,0.0002156632,0.0008510574,0.0001205643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008954185,"about_ca_system_score_gemma":0.000826036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007002728,"about_ca_topic_score_gemma":0.003737,"domain_scores_codex":[0.9994884,0.0002081496,0.00004824689,0.00004760401,0.0001164916,0.00009112462],"domain_scores_gemma":[0.9990138,0.0004891168,0.0001202709,0.00003271885,0.0001021678,0.0002418836],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.04417145,0.001974957,0.8020072,0.0002834841,0.0004509404,0.02731304,0.0005333755,0.001271048,0.02308953,0.0005230516,0.001210903,0.09717102],"study_design_scores_gemma":[0.0002248545,0.003426047,0.9804816,0.00007525861,0.0003911668,0.008862372,0.0003493644,0.00108946,0.003477189,0.0004194451,0.001171818,0.00003137538],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992301,0.004385495,0.0001865946,0.0008344384,0.00005588185,0.00001467431,0.0001753053,0.00002402325,0.002022702],"genre_scores_gemma":[0.9983585,0.0008134019,0.0001718623,0.0001299757,0.00003514495,0.000004519864,0.0001378217,0.000006809728,0.0003419019],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007002728,"threshold_uncertainty_score":0.01392394,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005941628828575829,"score_gpt":0.2386660372153735,"score_spread":0.2327244083867977,"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."}}