{"id":"W2081981200","doi":"10.1016/j.ymgme.2012.07.022","title":"Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease","year":2012,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Muscle metabolism and nutrition","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Rare Disease Foundation","keywords":"Newborn screening; Medicine; Cohort; Creatine; Compound heterozygosity; Population; Pediatrics; Internal medicine; Mutation; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004550213,0.001230549,0.001043963,0.0009517945,0.0008399152,0.0006328006,0.0006172259,0.002541033,0.001519957],"category_scores_gemma":[0.002669619,0.000308411,0.0003971222,0.0001883959,0.0007095659,0.0006305779,0.0005114731,0.002382114,0.0004891092],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007860112,"about_ca_system_score_gemma":0.001648593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004436151,"about_ca_topic_score_gemma":0.003297779,"domain_scores_codex":[0.9997773,0.00005310652,0.00003190887,0.00003409683,0.00006370893,0.00003980397],"domain_scores_gemma":[0.9994571,0.0002322557,0.00003337522,0.00002295817,0.00008129471,0.0001731293],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002494342,0.001005704,0.2047627,0.001058003,0.000198924,0.2147246,0.001036556,0.0008293366,0.1690069,0.01113453,0.03584017,0.3579082],"study_design_scores_gemma":[0.0003028655,0.003994916,0.151394,0.002212375,0.0009044033,0.4747162,0.002424782,0.00508718,0.2111024,0.02590667,0.1217123,0.0002418831],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6453525,0.09717534,0.08004444,0.1320245,0.005323526,0.0005361363,0.001468107,0.002424552,0.03565087],"genre_scores_gemma":[0.9034599,0.03596139,0.03736867,0.009813792,0.00138967,0.0001619602,0.0004918759,0.0001847871,0.01116801],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004436151,"threshold_uncertainty_score":0.008820713,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01797941637792301,"score_gpt":0.2573742883242163,"score_spread":0.2393948719462933,"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."}}