{"id":"W3089744804","doi":"10.1002/jmd2.12171","title":"Two cases of carbonic anhydrase <scp>VA</scp> deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome","year":2020,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Grand River Hospital; Western University; Hospital for Sick Children","funders":"","keywords":"Hyperammonemia; Ketonuria; Lactic acidosis; Internal medicine; Endocrinology; Metabolic acidosis; Decompensation; Medicine; Hypoglycemia; Metabolic disorder; Urea cycle; Inborn error of metabolism; Acidosis; Chemistry; Biochemistry; Arginine; Diabetes mellitus; 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":[0.0002991573,0.001228637,0.000417239,0.0009379891,0.0007954725,0.000890376,0.0006943459,0.001590073,0.001440863],"category_scores_gemma":[0.002495802,0.0005397713,0.0003506734,0.000501374,0.00111901,0.0005846873,0.001119229,0.0008755182,0.0003484976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004504556,"about_ca_system_score_gemma":0.0002590221,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001050559,"about_ca_topic_score_gemma":0.0008789967,"domain_scores_codex":[0.9995314,0.00007078226,0.00008218375,0.0001083932,0.00005804776,0.0001492024],"domain_scores_gemma":[0.998635,0.0004110314,0.000424389,0.0001326767,0.00006132921,0.0003355383],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006871027,0.00006888971,0.02901972,0.00004000083,0.00001542571,0.9650223,0.0002860204,0.00007717733,0.002309869,0.0003912669,0.000343402,0.002357216],"study_design_scores_gemma":[0.00002371461,0.00009363187,0.012101,0.000007763594,0.000008487948,0.9860587,0.00009327858,0.0001399736,0.0007044845,0.0001240144,0.0006358996,0.000009089451],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936957,0.0009089897,0.001527965,0.0003458108,0.0001135915,0.0000568283,0.00007353863,0.0000674988,0.003210074],"genre_scores_gemma":[0.9978465,0.0002445982,0.0007586651,0.0001612784,0.0001268915,0.00002244192,0.00007368759,0.0000125561,0.0007533939],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001590073,"threshold_uncertainty_score":0.004820108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02631400627651967,"score_gpt":0.3034957359125728,"score_spread":0.2771817296360531,"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."}}