{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001903074,0.00125804,0.00168242,0.001346601,0.000264051,0.0002129315,0.001036352,0.0005131035,0.000009330768],"category_scores_gemma":[0.002555161,0.00114737,0.0005309978,0.001714657,0.0002832773,0.0001982656,0.0002669046,0.0006100752,0.00000868051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008374757,"about_ca_system_score_gemma":0.001484063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006231372,"about_ca_topic_score_gemma":0.0001835594,"domain_scores_codex":[0.9921467,0.0004514238,0.002889915,0.001340319,0.001365747,0.001805939],"domain_scores_gemma":[0.9941281,0.0005568035,0.002269831,0.0008923869,0.0009015799,0.00125128],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008332288,0.02164629,0.3231317,0.002131419,0.002057699,0.0003065681,0.02717678,0.01225173,0.5703472,0.0005758049,0.01495969,0.02458185],"study_design_scores_gemma":[0.03628187,0.002113908,0.651782,0.0004981686,0.001422956,0.00006392502,0.0139533,0.001082549,0.1426529,0.0005634062,0.1490107,0.0005743781],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9764022,0.01867275,0.001529902,0.00004127411,0.0004065582,0.001981079,0.0004373481,0.00003154408,0.0004973995],"genre_scores_gemma":[0.9865378,0.002263719,0.008739204,0.0008088865,0.0002433794,0.0001853494,0.0005848007,0.0001778633,0.0004590115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4276944,"threshold_uncertainty_score":0.9990976,"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."}}