{"id":"W1964923153","doi":"10.1007/s10545-009-1282-x","title":"Development and implementation of a novel assay for <scp>l</scp>‐2‐hydroxyglutarate dehydrogenase (<scp>l</scp>‐2‐HGDH) in cell lysates: <scp>l</scp>‐2‐HGDH deficiency in 15 patients with <scp>l</scp>‐2‐hydroxyglutaric aciduria","year":2009,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Lymphoblast; Dehydrogenase; Enzyme; Molecular biology; Biochemistry; Glutamate dehydrogenase; Biology; Cell culture; Chemistry; Glutamate receptor; Genetics","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":[0.0008613667,0.001133478,0.0006879481,0.0007461022,0.000343073,0.0006048673,0.0005338701,0.001174003,0.0006392801],"category_scores_gemma":[0.001094235,0.0004245777,0.0005070113,0.0005563959,0.0005093024,0.0003392542,0.0006202124,0.0008915676,0.00075425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002647005,"about_ca_system_score_gemma":0.0004002847,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007380596,"about_ca_topic_score_gemma":0.00107229,"domain_scores_codex":[0.9985061,0.0003444709,0.0001636504,0.0004634078,0.0003973682,0.0001250707],"domain_scores_gemma":[0.9992921,0.000179586,0.000106104,0.0001454707,0.0001847028,0.00009195292],"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":[0.0001072027,0.00006610642,0.005785794,0.00004430588,0.00002463735,0.00009348585,0.00007648437,0.00005834895,0.9903065,0.00002127292,0.00003492459,0.003380816],"study_design_scores_gemma":[0.00007857985,0.001562438,0.0287688,0.00001692663,0.0001035389,0.00166093,0.0001101303,0.001886114,0.9636074,0.00006634615,0.002116981,0.0000219676],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9059811,0.002806641,0.08670286,0.0002140767,0.0001459218,0.0006596606,0.00164084,0.0004844809,0.001364512],"genre_scores_gemma":[0.9098871,0.0009386369,0.08323985,0.0001791579,0.00005177235,0.000773238,0.003550921,0.00007296103,0.001306383],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001174003,"threshold_uncertainty_score":0.004555345,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008102972797802815,"score_gpt":0.2426634260517242,"score_spread":0.2345604532539214,"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."}}