{"id":"W2006493979","doi":"10.1016/j.ymgme.2007.10.001","title":"Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease","year":2007,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":96,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Centre hospitalier universitaire de Québec; Montreal Children's Hospital; Dalhousie University; Hôpital du Sacré-Cœur de Montréal; Université de Sherbrooke","funders":"","keywords":"Globotriaosylceramide; Fabry disease; Creatinine; Urinary system; Excretion; Alpha-galactosidase; Urine; Medicine; Internal medicine; Endocrinology; Urology; Disease","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":[0.0004247874,0.0004612907,0.0009029472,0.001130864,0.000418572,0.0007400354,0.0003170941,0.0007823578,0.001199515],"category_scores_gemma":[0.003815864,0.0005720117,0.0004531872,0.0009859129,0.0005512654,0.0006349506,0.0004141202,0.0006581468,0.0002868459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003238317,"about_ca_system_score_gemma":0.0002825427,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003233236,"about_ca_topic_score_gemma":0.00254802,"domain_scores_codex":[0.9995736,0.00009865365,0.00007112102,0.00008038825,0.00007654353,0.00009962577],"domain_scores_gemma":[0.9980337,0.0005903548,0.0008037935,0.00007832817,0.0001480319,0.0003457672],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003185075,0.00002659617,0.996956,0.00000906106,0.00003002748,0.0005464269,0.0001775003,0.00002878471,0.001028862,0.00001459773,0.00004896677,0.0008145954],"study_design_scores_gemma":[0.000006939993,0.000133961,0.9968411,0.000003490936,0.00002103026,0.002510907,0.0001583736,0.00006030056,0.0001854303,0.00001656405,0.00005836282,0.000003574488],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995295,0.0002029268,0.0000239004,0.00002081846,0.000002237528,0.000001193569,0.00008839206,0.000003965365,0.0001271009],"genre_scores_gemma":[0.999526,0.0001173888,0.00006147608,0.00001973914,0.000005941621,0.000002892673,0.0001613678,0.000003717611,0.0001015196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003233236,"threshold_uncertainty_score":0.006428838,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003961205971276449,"score_gpt":0.2283416508677324,"score_spread":0.2243804448964559,"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."}}