{"id":"W2180995368","doi":"10.1016/j.cca.2015.11.018","title":"Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients","year":2015,"lang":"en","type":"article","venue":"Clinica Chimica Acta","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke","funders":"Canadian Institutes of Health Research; Shire Human Genetic Therapies; Waters Corporation","keywords":"Globotriaosylceramide; Fabry disease; Urinary system; Chemistry; Gene isoform; Urine; Biomarker; Creatinine; Multiplex; Internal medicine; Endocrinology; Biochemistry; Medicine; Biology; Disease; Bioinformatics; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0008840765,0.0002945181,0.001142586,0.001271184,0.00004844083,0.00002215955,0.0003070983,0.0002697135,0.0002084163],"category_scores_gemma":[0.003820027,0.0002433879,0.0003220789,0.002995511,0.0002778246,0.0001776136,0.0002643059,0.0006308142,0.00001426239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001873226,"about_ca_system_score_gemma":0.0002781887,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001054863,"about_ca_topic_score_gemma":0.00002559205,"domain_scores_codex":[0.9968426,0.0001970163,0.001013161,0.0006694797,0.0007442221,0.0005335336],"domain_scores_gemma":[0.9972866,0.0004464558,0.000308888,0.0007635921,0.0003491628,0.0008452572],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00201309,0.002040544,0.9872531,0.00009053805,0.001124321,0.00007632036,0.0003665666,0.000006580903,0.006105775,0.00000209209,0.0002744586,0.0006466239],"study_design_scores_gemma":[0.006854815,0.001004681,0.9776957,0.00007601079,0.0009098745,0.000001270929,0.0002147355,0.01238676,0.0003283699,0.0001837675,0.00009309241,0.0002509175],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973436,0.0002517925,0.00003534641,0.0005178642,0.00008039578,0.0007374925,0.00007537171,0.000047944,0.0009101667],"genre_scores_gemma":[0.9978836,0.0002993188,0.0009963402,0.0001531655,0.0000376647,0.00002124768,0.0003627743,0.00004527031,0.0002005765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01238018,"threshold_uncertainty_score":0.9925069,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0385008600345488,"score_gpt":0.3422181603049665,"score_spread":0.3037173002704177,"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."}}