{"id":"W2894254285","doi":"10.1016/j.mgene.2018.05.050","title":"Clinical and translational biomarkers for lysosomal storage disorders","year":2018,"lang":"en","type":"article","venue":"Meta Gene","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Dermatan sulfate; Fabry disease; Lysosomal storage disease; Enzyme replacement therapy; Multiplex; Biomarker; Keratan sulfate; Medicine; Urine; Biomarker discovery; Chondroitin sulfate; Tandem mass spectrometry; Glycosaminoglycan; Mass spectrometry; Chemistry; Internal medicine; Disease; Biochemistry; Bioinformatics; Proteomics; Chromatography; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002807228,0.001031586,0.0007952789,0.004594923,0.000750786,0.003029754,0.00071775,0.001544853,0.004235944],"category_scores_gemma":[0.005676143,0.0002287912,0.0004685272,0.00239852,0.001019404,0.001193249,0.001381674,0.001124144,0.001688447],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009788987,"about_ca_system_score_gemma":0.001323164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004002895,"about_ca_topic_score_gemma":0.0004071516,"domain_scores_codex":[0.9985316,0.0005936203,0.0002673192,0.0001520031,0.0003440263,0.0001114259],"domain_scores_gemma":[0.9973857,0.0005920951,0.0008991789,0.0001691453,0.0006259579,0.0003278298],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.005238513,0.00121173,0.3797978,0.002567386,0.0005553678,0.005246864,0.0006618475,0.0008713679,0.1239479,0.0327513,0.03441733,0.4127327],"study_design_scores_gemma":[0.001032488,0.006466787,0.4347359,0.003067431,0.001572206,0.04096344,0.002577186,0.00428865,0.151537,0.06398733,0.2895085,0.0002630845],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5520757,0.2907926,0.01878606,0.04223537,0.004962825,0.0006943187,0.01024863,0.001055291,0.07914923],"genre_scores_gemma":[0.9175031,0.03289162,0.02545943,0.004640022,0.003556122,0.0005335737,0.00569141,0.0001075599,0.009617086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004594923,"threshold_uncertainty_score":0.01484621,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07647041331725839,"score_gpt":0.3820588317637591,"score_spread":0.3055884184465007,"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."}}