{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005316411,0.0006130455,0.001025883,0.0008932622,0.0002966147,0.0008868002,0.00064313,0.0009546567,0.004325062],"category_scores_gemma":[0.0006025525,0.0001485688,0.000788752,0.0004468247,0.0004236365,0.0007117192,0.0008071612,0.001867036,0.001790145],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006025574,"about_ca_system_score_gemma":0.0004257303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003249138,"about_ca_topic_score_gemma":0.0007468332,"domain_scores_codex":[0.999683,0.00007052656,0.00003690705,0.00005516173,0.0001098163,0.00004459931],"domain_scores_gemma":[0.9998205,0.00006576978,0.00004112911,0.000009388569,0.00003992256,0.00002325946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007851544,0.0003236175,0.0008327,0.007701261,0.0003186802,0.002583287,0.0001460177,0.0008107367,0.07918274,0.01327199,0.03620485,0.8578389],"study_design_scores_gemma":[0.000154577,0.001288974,0.001705536,0.001602202,0.0003590644,0.009766166,0.0001076546,0.00102385,0.06101404,0.009799818,0.9131148,0.00006333296],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.006528643,0.9734997,0.008892084,0.001884275,0.001663907,0.00005361439,0.0001499171,0.000253272,0.007074577],"genre_scores_gemma":[0.05030532,0.9290042,0.007436971,0.002381436,0.001207544,0.00009894573,0.0005323465,0.0001036639,0.008929566],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004325062,"threshold_uncertainty_score":0.01446879,"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."}}