{"id":"W2912978579","doi":"10.1038/s41436-019-0451-z","title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"Amicus Therapeutics","keywords":"Fabry disease; Medicine; Phenotype; Internal medicine; Placebo; Gastroenterology; Cardiology; Disease; Pathology; Biology; Genetics; Gene","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":[0.002721416,0.0001985252,0.0009708787,0.00008753361,0.00004003225,0.000006640288,0.0005002002,0.00006529795,0.0001277444],"category_scores_gemma":[0.001406105,0.00008332437,0.00004567005,0.000374024,0.001275266,0.00004763143,0.0005377655,0.0004359028,8.58013e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002015703,"about_ca_system_score_gemma":0.0001537604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003926569,"about_ca_topic_score_gemma":0.0001939885,"domain_scores_codex":[0.996527,0.0009524683,0.0009541771,0.0004918249,0.0008277423,0.0002468544],"domain_scores_gemma":[0.9958349,0.002379343,0.0004180338,0.001051755,0.0001952623,0.0001206751],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","study_design_scores_codex":[0.6610655,0.004709932,0.3289098,0.00008675604,0.0002029586,0.00001194217,0.001424128,0.00001626195,0.0006239485,0.000001566721,0.0001421497,0.00280506],"study_design_scores_gemma":[0.688545,0.002471107,0.3031694,0.0002821203,0.0005720601,5.676739e-7,0.00126366,0.003570304,0.00002576363,0.000008737648,0.00003145824,0.00005980879],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862368,0.004094582,0.00002618008,0.001061137,0.0002067486,0.008270852,0.00008445846,0.000002654995,0.00001658218],"genre_scores_gemma":[0.998105,0.001417465,0.00006369629,0.0001612643,0.00007949866,0.00004514966,0.00007800281,0.00001922173,0.00003073969],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02747956,"threshold_uncertainty_score":0.4698771,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1190674725454085,"score_gpt":0.416538174780276,"score_spread":0.2974707022348676,"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."}}