{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002784774,0.0009695908,0.0003977273,0.002154852,0.001780626,0.0009986773,0.001114545,0.001764889,0.00229539],"category_scores_gemma":[0.002191629,0.0004725406,0.0004389299,0.001104058,0.001214914,0.0004543956,0.0009492206,0.001402244,0.0003909328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003071746,"about_ca_system_score_gemma":0.002906192,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1156471,"about_ca_topic_score_gemma":0.1136747,"domain_scores_codex":[0.9994193,0.00005564261,0.00004515139,0.0001106184,0.0001477139,0.0002214854],"domain_scores_gemma":[0.9987289,0.0003237292,0.000223045,0.00006439452,0.0002034556,0.000456414],"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":[0.00002136007,0.00002911386,0.01531792,0.00001840392,0.00000412211,0.9798765,0.0002981595,0.00005377468,0.002580622,0.0001890179,0.0002423331,0.001368699],"study_design_scores_gemma":[0.000008672163,0.00007008443,0.02238683,0.00002539917,0.00001406256,0.9730661,0.0003263025,0.0005661101,0.002527107,0.0001173161,0.0008765635,0.00001536976],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.978915,0.001014577,0.002490338,0.001519631,0.00019489,0.0001464522,0.0003280961,0.0001748996,0.01521608],"genre_scores_gemma":[0.9973831,0.0002432237,0.0008209049,0.0002731316,0.00004420198,0.000009989672,0.00005441201,0.00001201641,0.001159025],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1156471,"threshold_uncertainty_score":0.229948,"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."}}