{"id":"W4327575281","doi":"10.1136/openhrt-2023-002251","title":"Late-onset and classic phenotypes of Fabry disease in males with the <i>GLA</i>-Thr410Ala mutation","year":2023,"lang":"en","type":"article","venue":"Open Heart","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"Sydäntutkimussäätiö; Kuopion Yliopistollinen Sairaala; Academy of Finland; Sanofi","keywords":"Fabry disease; Enzyme replacement therapy; Medicine; Cardiomyopathy; Internal medicine; Hypertrophic cardiomyopathy; Cardiology; Family history; Gene mutation; Endocrinology; Gastroenterology; Disease; Mutation; Heart failure; Genetics; Gene; 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":[0.0001691038,0.0009610133,0.0002726949,0.0005326038,0.0002849211,0.0002582543,0.000201409,0.0005772845,0.002388692],"category_scores_gemma":[0.0004927992,0.0001841061,0.0002838484,0.0002022434,0.000333004,0.0001953459,0.0002048754,0.000250846,0.0004785064],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001049725,"about_ca_system_score_gemma":0.00008988164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005158576,"about_ca_topic_score_gemma":0.0004861495,"domain_scores_codex":[0.9998931,0.0000159386,0.000009198342,0.0000338058,0.00001969743,0.00002836928],"domain_scores_gemma":[0.9997728,0.00005577409,0.00007833532,0.000008408381,0.0000137844,0.00007084719],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001009555,0.0002603251,0.5315121,0.0001020461,0.00006335417,0.3257605,0.000878859,0.0004585179,0.1163621,0.0003889154,0.000941427,0.02226229],"study_design_scores_gemma":[0.00004483584,0.001169007,0.3855365,0.00002766614,0.00006473235,0.6041597,0.0003142673,0.0004366778,0.006341533,0.0001687021,0.001713137,0.00002333238],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975788,0.0004402766,0.0005362703,0.00008298707,0.00001231274,0.000008647987,0.0001244373,0.00004722913,0.001169048],"genre_scores_gemma":[0.9985102,0.00016786,0.0004423555,0.00007593823,0.00005790672,0.000004378319,0.00008986646,0.000008751491,0.0006428683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002388692,"threshold_uncertainty_score":0.007990956,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03255352874556618,"score_gpt":0.3288066446761533,"score_spread":0.2962531159305871,"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."}}