{"id":"W2010397886","doi":"10.1203/pdr.0b013e3181462b86","title":"Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase","year":2007,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Metabolism, Diabetes, and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Muscular Dystrophy Association; Biotechnology and Biological Sciences Research Council; AstraZeneca; European Commission; Fund for Astrophysical Research","keywords":"Phosphorylase kinase; Internal medicine; Glycogen storage disease; Glycogen; Endocrinology; Mutation; Hypertrophic cardiomyopathy; Cardiomyopathy; Biology; Protein kinase A; Noonan syndrome; Ventricular hypertrophy; Kinase; Glycogen phosphorylase; Medicine; Gene; Left ventricular hypertrophy; Biochemistry; Heart failure","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":[0.0009899352,0.003622119,0.00135672,0.001983694,0.001627792,0.0008691289,0.001469048,0.00494023,0.001613124],"category_scores_gemma":[0.005513257,0.001497865,0.0009926183,0.0009800587,0.002743362,0.000928541,0.001530394,0.003320756,0.0005330378],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001396048,"about_ca_system_score_gemma":0.0008945428,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001978126,"about_ca_topic_score_gemma":0.001691213,"domain_scores_codex":[0.9991686,0.0001472614,0.00008991508,0.0001510886,0.000163415,0.0002796604],"domain_scores_gemma":[0.9971535,0.0008357112,0.0006270059,0.0002208386,0.0001775825,0.0009852302],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003385218,0.00005268044,0.004411645,0.00002971637,0.00001997475,0.9913653,0.00009230278,0.0001683449,0.002208797,0.0003967891,0.0003023725,0.0006136097],"study_design_scores_gemma":[0.0001494346,0.0005188889,0.02110465,0.00002400089,0.00007075544,0.9735215,0.0001297263,0.0005206342,0.002712454,0.0005686935,0.0006438826,0.00003544031],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856704,0.001105195,0.002681869,0.001972699,0.0004442037,0.0001101311,0.0004818357,0.0002387861,0.007294917],"genre_scores_gemma":[0.9969466,0.0003836801,0.0006231765,0.000420701,0.0003393866,0.00002057572,0.0001547069,0.00003685787,0.001074278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00494023,"threshold_uncertainty_score":0.01012903,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02278693315182639,"score_gpt":0.3123211237291693,"score_spread":0.2895341905773429,"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."}}