{"id":"W2161368699","doi":"10.1016/j.ymgme.2007.03.006","title":"Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology","year":2007,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Muscle metabolism and nutrition","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Creatine; Pathophysiology; Ornithine; Internal medicine; Medicine; Methyltransferase; Endocrinology; Chemistry; Arginine; Biochemistry; Amino acid; Methylation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001115106,0.0003025108,0.0003780059,0.0001131154,0.00008031774,0.00002176542,0.0000679578,0.0001160771,0.000002962067],"category_scores_gemma":[0.0000103541,0.0002321612,0.00007894885,0.0001300815,0.0001079594,0.000003970591,0.00003850436,0.00003233568,6.602794e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001103631,"about_ca_system_score_gemma":0.00003770326,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009009751,"about_ca_topic_score_gemma":0.00005573871,"domain_scores_codex":[0.9985624,0.00006937187,0.0002960332,0.0005362338,0.0001443822,0.0003915645],"domain_scores_gemma":[0.9992686,0.0000159412,0.00006747137,0.0003246007,0.0001033271,0.0002200811],"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":[0.0003907142,0.0002342565,0.0003415059,0.00001769666,0.00008690599,0.00002310395,0.0003131287,0.0001421663,0.8933282,0.0005218483,0.000003030351,0.1045974],"study_design_scores_gemma":[0.00223893,0.003580485,0.01520931,0.00001184346,0.0001865251,0.00002267234,0.0001275719,0.00001806413,0.9481156,0.0002414129,0.0299575,0.0002900907],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9614589,0.03201927,0.005703881,0.00004567068,0.00006582365,0.0005203257,0.00007728165,0.000006830373,0.0001020786],"genre_scores_gemma":[0.9798583,0.0152583,0.004513193,0.0001547346,0.00005227822,0.00004642741,0.00005876922,0.00003206574,0.00002593053],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1043073,"threshold_uncertainty_score":0.946726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007156034896067741,"score_gpt":0.2363340272219696,"score_spread":0.2291779923259019,"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."}}