{"id":"W4388630440","doi":"10.1002/pd.6460","title":"Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects","year":2023,"lang":"en","type":"review","venue":"Prenatal Diagnosis","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Sanofi Genzyme; National Institutes of Health; Sangamo Therapeutics; Inventiva Pharma; National Institute for Health and Care Research; Amicus Therapeutics; University of California, San Francisco; Swedish Orphan Biovitrum; BioMarin Pharmaceutical; Alexion Pharmaceuticals; Ultragenyx Pharmaceutical; NIH Clinical Center; Maze Therapeutics; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Sanofi","keywords":"Enzyme replacement therapy; In utero; Medicine; Immune system; Lysosomal storage disease; Disease; Substrate reduction therapy; Lysosomal storage disorders; Fetus; Bioinformatics; Immunology; Neuroscience; Pregnancy; Internal medicine; 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":[0.0007972866,0.000597529,0.001028831,0.001519672,0.0002400549,0.0008563277,0.0006409431,0.000872869,0.003797597],"category_scores_gemma":[0.001163643,0.0001831497,0.0005871318,0.00117812,0.0004534977,0.00111704,0.0005642373,0.001720912,0.001310329],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004579993,"about_ca_system_score_gemma":0.0007884311,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007476773,"about_ca_topic_score_gemma":0.001567528,"domain_scores_codex":[0.9997649,0.00005121387,0.00004201701,0.00003574466,0.00008297871,0.00002319183],"domain_scores_gemma":[0.9994501,0.0003494736,0.00006018393,0.00001256077,0.00009283579,0.000034874],"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":[0.0000770955,0.00006406179,0.0001557069,0.01166144,0.00006736051,0.0001747545,0.00005517512,0.0002266665,0.00109957,0.003449301,0.02063411,0.9623347],"study_design_scores_gemma":[0.00002508047,0.0001336651,0.0005634886,0.004606905,0.0001442207,0.001498018,0.00007093691,0.0001056399,0.0005224558,0.002427415,0.9898844,0.00001784646],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0000907997,0.9988942,0.00008908391,0.0002406934,0.0001109268,0.000002309438,0.00001011167,0.000006172337,0.0005558014],"genre_scores_gemma":[0.0005674278,0.9986241,0.0002104805,0.0001732959,0.0001153209,0.00000467247,0.00001946391,0.000001748969,0.000283574],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003797597,"threshold_uncertainty_score":0.01270419,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06329328124264542,"score_gpt":0.3736380325335952,"score_spread":0.3103447512909497,"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."}}