{"id":"W2913165892","doi":"10.1042/etls20180058","title":"Substrate reduction therapy for inborn errors of metabolism","year":2019,"lang":"en","type":"article","venue":"Emerging Topics in Life Sciences","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministero dello Sviluppo Economico; Fundação de Amparo à Pesquisa do Estado de São Paulo; Ontario Ministry of Economic Development and Innovation; European Federation of Pharmaceutical Industries and Associations; Galactosemia Foundation; Novartis Pharma; Wellcome Trust; Engineering and Physical Sciences Research Council; Genome Canada; Pfizer","keywords":"Medicine; Substrate reduction therapy; Bioinformatics; Enzyme replacement therapy; Biology; Disease; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003871053,0.0000621779,0.00009211252,0.00005463698,0.00003556078,0.000007660504,0.0002184034,0.00006461132,0.00001641247],"category_scores_gemma":[0.00007607425,0.00005147026,0.00005364801,0.0001836874,0.0001493037,0.000004858534,0.00004449805,0.00005237119,0.000001243188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002879128,"about_ca_system_score_gemma":0.00008678891,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002886177,"about_ca_topic_score_gemma":0.000004398794,"domain_scores_codex":[0.9992771,0.00002814667,0.0001410163,0.0002397423,0.0001406131,0.0001733822],"domain_scores_gemma":[0.9997317,0.000005954263,0.00004391959,0.0001362339,0.00004808181,0.00003417933],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004658582,0.00003475886,0.003865099,0.00001802261,0.00001049065,8.871535e-8,0.00006807417,0.0001224095,0.9914852,0.001558506,0.0003253445,0.002465404],"study_design_scores_gemma":[0.0004135295,0.0001816634,0.003889823,0.00001019211,0.000001693486,9.01744e-7,0.0001652865,0.0001483107,0.9649857,0.0009712394,0.02913339,0.00009821217],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960639,0.001678768,0.0001236608,0.000784155,0.0002800493,0.0001875826,0.000002563191,0.000003146858,0.0008761429],"genre_scores_gemma":[0.9974902,0.0003657955,0.001408085,0.0000840661,0.0001505252,0.00001454183,0.000008421344,0.000004585646,0.0004737525],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02880805,"threshold_uncertainty_score":0.2098896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03007236703802306,"score_gpt":0.3325331420442524,"score_spread":0.3024607750062293,"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."}}