{"id":"W1979113533","doi":"10.1016/j.ymgme.2008.10.008","title":"Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency","year":2008,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval","funders":"","keywords":"Methyltransferase; Chemistry; Internal medicine; Medicine; Biochemistry; Gene; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005375696,0.003379795,0.001156933,0.002480808,0.0007043302,0.0005231869,0.0008697088,0.00121276,0.004421862],"category_scores_gemma":[0.002362526,0.0003894602,0.0003194073,0.001172222,0.001753089,0.0007036779,0.001036787,0.0009899957,0.0004719482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003411272,"about_ca_system_score_gemma":0.0007033998,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001858067,"about_ca_topic_score_gemma":0.0008595453,"domain_scores_codex":[0.9994251,0.0001178457,0.00005302957,0.0001426686,0.0001627933,0.00009871465],"domain_scores_gemma":[0.9992083,0.0002885272,0.00009211266,0.0000353099,0.000108925,0.00026697],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002140288,0.0003001085,0.1359828,0.0003128716,0.0000947955,0.7624614,0.0007317227,0.001359907,0.06330655,0.003905302,0.003268992,0.02613534],"study_design_scores_gemma":[0.0001301832,0.000448379,0.1404963,0.00009318086,0.0001405327,0.8471166,0.0003437054,0.001159877,0.004973223,0.002210858,0.002843956,0.00004318411],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9650568,0.00244727,0.003856871,0.001849387,0.0001292142,0.0001431992,0.0008781148,0.0002432152,0.02539585],"genre_scores_gemma":[0.9966151,0.0007648245,0.001127835,0.0003063981,0.0001162415,0.00002209871,0.0002214628,0.00003018664,0.0007958599],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004421862,"threshold_uncertainty_score":0.01479262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02093846032321188,"score_gpt":0.2955284580075572,"score_spread":0.2745899976843453,"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."}}