{"id":"W3003855410","doi":"10.1016/j.ymgme.2019.11.213","title":"Analysis of urinary sphingolipids in patients with rare genetic diseases using a tandem mass spectrometry approach","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Biomedical Research and Pathophysiology","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Medicine; Enzyme replacement therapy; Hematopoietic stem cell transplantation; Cohort; Newborn screening; Pulmonary function testing; Transplantation; Internal medicine; Mucopolysaccharidosis; Retrospective cohort study; Mucolipidosis; Disease; Pediatrics","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":[],"consensus_categories":[],"category_scores_codex":[0.00004897964,0.0001373978,0.0005370097,0.0003103161,0.00002051142,0.0000083261,0.00008178636,0.00007743518,0.00002331003],"category_scores_gemma":[0.00006502711,0.0001051695,0.0001011696,0.001221497,0.0001373723,0.00001169036,0.00007208635,0.0001430527,3.131551e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009840475,"about_ca_system_score_gemma":0.00007967852,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001263488,"about_ca_topic_score_gemma":2.77637e-7,"domain_scores_codex":[0.9987552,0.00007802339,0.0002152608,0.0003169775,0.0003741056,0.0002604403],"domain_scores_gemma":[0.9992732,0.00001460198,0.00005870556,0.0001958597,0.00007384085,0.0003838138],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006746326,0.0007356703,0.8387014,0.0003655884,0.001502332,0.0002038522,0.0002313399,0.0008678259,0.1529405,0.00007313303,0.000006595363,0.003697239],"study_design_scores_gemma":[0.001874685,0.0004744842,0.9817191,0.00001373357,0.0013124,0.00000164427,0.0000253163,0.01345721,0.0008689283,0.00004505537,0.00009487518,0.0001126098],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9809215,0.00747097,0.01119882,0.00006575658,0.00001234793,0.0002453469,0.00004202217,0.00000627554,0.00003696736],"genre_scores_gemma":[0.9817396,0.0003594488,0.01741308,0.000339134,0.00004791953,0.000005078443,0.00007686199,0.00001664469,0.000002166855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1520715,"threshold_uncertainty_score":0.4288688,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01282921790178991,"score_gpt":0.25042672350976,"score_spread":0.2375975056079701,"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."}}