{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002445607,0.0008029199,0.000229858,0.0008030326,0.0003303105,0.000345558,0.0002407064,0.00050454,0.0008406558],"category_scores_gemma":[0.0004530622,0.0001748685,0.000207742,0.0003308743,0.0006130397,0.0001701954,0.0003070804,0.0005887269,0.000292716],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002452112,"about_ca_system_score_gemma":0.0001742432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008867828,"about_ca_topic_score_gemma":0.0008726636,"domain_scores_codex":[0.9997419,0.00004524075,0.00002951727,0.00009435981,0.00006350406,0.00002541269],"domain_scores_gemma":[0.9997415,0.00009523726,0.00004039205,0.00003062444,0.00002840104,0.00006389965],"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":[0.0004525982,0.0000708394,0.06530834,0.0001402204,0.00004825634,0.02771748,0.0003156054,0.0002236182,0.8753476,0.0002423208,0.0003263091,0.0298069],"study_design_scores_gemma":[0.00008564812,0.0005975654,0.1717502,0.00004490353,0.0001000324,0.2964042,0.000226627,0.003490185,0.5202348,0.0005383028,0.006493533,0.00003399415],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858328,0.001399627,0.01063504,0.0002732697,0.00002200449,0.00003482757,0.0001970373,0.0002272063,0.001378169],"genre_scores_gemma":[0.9923927,0.0005418279,0.006506054,0.0001064613,0.00001635385,0.00001530055,0.0001029574,0.00002132078,0.0002971407],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008867828,"threshold_uncertainty_score":0.002812326,"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."}}