{"id":"W3137311090","doi":"10.1016/j.ymgmr.2021.100741","title":"Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Amino Acid Enzymes and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Toronto; SickKids Foundation; Stollery Children's Hospital; Hospital for Sick Children","funders":"","keywords":"Internal medicine; Failure to thrive; Glutamine; Hyperammonemia; Endocrinology; Newborn screening; Homocystinuria; Orotic acid; Asymptomatic; Argininosuccinate synthase; Medicine; Short stature; Inborn error of metabolism; Citrulline; Arginine; Biology; Amino acid; Biochemistry; Methionine","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":[0.0003744988,0.0003719172,0.0004629798,0.0001114414,0.00009261505,0.0000945115,0.0001450614,0.0002455848,0.00002384771],"category_scores_gemma":[0.0001662391,0.0003866196,0.0001672758,0.0003651734,0.00008715106,0.000009287083,0.0002981217,0.0001943843,0.000002826739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000117698,"about_ca_system_score_gemma":0.0001932596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000463303,"about_ca_topic_score_gemma":0.00004296664,"domain_scores_codex":[0.9973633,0.0001329798,0.0006296737,0.000975527,0.0003145631,0.0005839345],"domain_scores_gemma":[0.9985114,0.000004000602,0.0002345155,0.0008581511,0.0001807778,0.0002111902],"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":[0.00001858322,0.0001169715,0.001711379,0.00004390372,0.00003561099,0.001070959,0.00008674451,0.0003942783,0.9911171,0.0003898971,0.00009355963,0.004921081],"study_design_scores_gemma":[0.0008691915,0.00004780617,0.01478019,0.0000613571,0.00009336902,0.000724378,0.0001365171,0.0001350095,0.9145527,0.0004175478,0.06756046,0.0006214101],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.935892,0.06004654,0.002295513,0.0001346061,0.0003325119,0.0003517761,0.000009675324,0.00001927104,0.0009181155],"genre_scores_gemma":[0.989324,0.002042976,0.006640323,0.0004295908,0.0001593197,0.00007953185,0.0000647189,0.00006889781,0.001190589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07656427,"threshold_uncertainty_score":0.9998586,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005094255544357253,"score_gpt":0.2223235705512389,"score_spread":0.2172293150068816,"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."}}