{"id":"W4387877137","doi":"10.1002/jmd2.12399","title":"A case of hyperlysinemia identified by urine newborn screening","year":2023,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Université Laval; Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Université de Sherbrooke; Centre hospitalier universitaire de Québec","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Institutes of Health","keywords":"Cystinuria; Medicine; Urine; Newborn screening; Abnormality; Urinary system; Lysine; Pediatrics; Internal medicine; Genetics; Biochemistry; Biology; Amino acid","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002594854,0.0001123595,0.0001616813,0.00005504093,0.00004829311,0.0000132053,0.00006794239,0.0000904556,0.00005059687],"category_scores_gemma":[0.0001211995,0.0001071149,0.00009573347,0.0002137459,0.00005171767,0.000002367146,0.00009727141,0.00004212662,0.000007396522],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":7.624459e-7,"about_ca_system_score_gemma":0.00003641413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001354997,"about_ca_topic_score_gemma":0.00003283205,"domain_scores_codex":[0.9989914,0.00002478587,0.0003390711,0.0003222536,0.0001270163,0.0001954323],"domain_scores_gemma":[0.9992091,0.000005859568,0.0001644512,0.0004794202,0.00006722764,0.00007393256],"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":[0.00002936955,0.00005863253,0.008993225,0.00004588365,0.00009893721,0.002876998,0.0000711167,0.0001504129,0.8397877,0.000008458172,0.1026315,0.04524773],"study_design_scores_gemma":[0.0008364132,0.0001275075,0.01117479,0.00002185496,0.0001222066,0.006072758,0.0004266458,0.0001439401,0.398257,0.0002485246,0.5821071,0.00046127],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952219,0.000866131,0.001543515,0.0000667467,0.0002352517,0.0001196594,0.00001653219,0.0000241825,0.001906113],"genre_scores_gemma":[0.9900882,0.0001372488,0.001138163,0.00006403166,0.0001029515,0.00001393015,0.0003270107,0.00002239405,0.008106043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4794756,"threshold_uncertainty_score":0.4368018,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01074041810214173,"score_gpt":0.2582615532718164,"score_spread":0.2475211351696747,"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."}}