{"id":"W4213124104","doi":"10.1002/jimd.12486","title":"<scp>3‐Hydroxyisobutyric</scp> acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and <scp>L‐3‐Hydroxyisobutyric</scp> acid by an <scp>LC–MS</scp>/<scp>MS</scp> method","year":2022,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Valine; Enzyme; Dehydrogenase; Catabolism; Gene; Chemistry; Biochemistry; Biology; Amino acid","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":[0.004526172,0.0009990521,0.001605828,0.0006125824,0.0008260324,0.0003235155,0.001398488,0.0004262044,0.00002826859],"category_scores_gemma":[0.00695828,0.000851698,0.0008732289,0.001271154,0.0006836454,0.0001670543,0.0007766508,0.001115967,0.000008226538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002984241,"about_ca_system_score_gemma":0.0007349222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006111961,"about_ca_topic_score_gemma":0.00002660591,"domain_scores_codex":[0.9910315,0.002258807,0.002471866,0.001382708,0.001502518,0.001352579],"domain_scores_gemma":[0.9932331,0.001099791,0.002336365,0.001251851,0.0004590033,0.001619915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002094777,0.00382546,0.03900578,0.0004019634,0.001729711,0.0002045626,0.005067549,0.002076487,0.8879647,0.00105301,0.04836363,0.01009762],"study_design_scores_gemma":[0.0121132,0.003451363,0.08855601,0.000152243,0.004255111,0.0007276821,0.02328565,0.004228638,0.2660899,0.004129963,0.5925079,0.0005023547],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8783369,0.1140351,0.00453289,0.0001630895,0.0008047107,0.0007935389,0.0006897246,0.00004114083,0.0006028676],"genre_scores_gemma":[0.9725723,0.01936896,0.004153113,0.001486867,0.0008479735,0.00009637341,0.0003751988,0.0002027445,0.000896414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6218749,"threshold_uncertainty_score":0.9993934,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01817282889107707,"score_gpt":0.3078327565249691,"score_spread":0.289659927633892,"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."}}