{"id":"W2936325242","doi":"10.1016/j.ajhg.2019.03.003","title":"The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; McGill University","funders":"National Institute of General Medical Sciences; KU Leuven; Ministerstvo Zdravotnictví Ceské Republiky; Nutricia Research Foundation","keywords":"Phosphoglucomutase; Glycosylation; Galactose; Glycan; Biochemistry; Glycogen; Glycome; Biology; Endoplasmic reticulum; Enzyme; Glycoprotein","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":[0.0002861884,0.000433112,0.0003817469,0.0007661103,0.000295283,0.001009845,0.0005251184,0.0005950063,0.002616516],"category_scores_gemma":[0.0002125971,0.0002199001,0.0004784384,0.0006087358,0.0004183049,0.0006624509,0.0003933856,0.001280231,0.0004998447],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001253171,"about_ca_system_score_gemma":0.001163466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001223675,"about_ca_topic_score_gemma":0.001630559,"domain_scores_codex":[0.999832,0.00005389523,0.000009226615,0.00002259123,0.00004112273,0.00004117476],"domain_scores_gemma":[0.9999479,0.00001059927,0.00001231187,0.000007716624,0.000009661496,0.00001185129],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01312039,0.001752942,0.007087337,0.001350362,0.0002305179,0.001778886,0.0001872486,0.005778109,0.4637568,0.02964575,0.006778562,0.4685331],"study_design_scores_gemma":[0.001433038,0.01055848,0.04395598,0.0004927138,0.0003680383,0.004074848,0.000576971,0.009254446,0.7396042,0.02262012,0.1669201,0.00014109],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.7446972,0.1631305,0.0248093,0.02166538,0.001023943,0.0006061158,0.003553499,0.0005185817,0.03999553],"genre_scores_gemma":[0.936742,0.04119143,0.009915872,0.001304145,0.0003286952,0.000271652,0.001604661,0.00005529371,0.008586445],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.002616516,"threshold_uncertainty_score":0.00909245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01034924125354072,"score_gpt":0.2851302543772858,"score_spread":0.2747810131237451,"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."}}