{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000457396,0.0008611584,0.002058664,0.0005247162,0.0002739999,0.0001998008,0.0003752281,0.0003624023,0.00009094871],"category_scores_gemma":[0.0004237533,0.0006762054,0.0004860245,0.0006669624,0.0001400488,0.000212743,0.0006007368,0.0007029812,0.00005615964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004980835,"about_ca_system_score_gemma":0.0004816603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002227613,"about_ca_topic_score_gemma":0.000053091,"domain_scores_codex":[0.9959888,0.0001350325,0.0009149265,0.001282034,0.0007857732,0.0008934763],"domain_scores_gemma":[0.9981343,0.0004098229,0.0003625216,0.0005932123,0.0001472181,0.0003529299],"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":[0.0001041652,0.0004274007,0.0004633135,0.09014709,0.0008271246,0.00003571588,0.0004911876,1.038853e-7,2.484766e-7,0.00009482998,0.001499865,0.9059089],"study_design_scores_gemma":[0.001824204,0.0005032575,0.0004165019,0.03102561,0.0007377811,0.00003907428,0.000101948,0.00001807213,0.000020452,0.000176154,0.9644317,0.0007052138],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001020612,0.9873019,0.0000726163,0.0004111363,0.0007400609,0.009770593,0.000358435,0.0002751583,0.00004948572],"genre_scores_gemma":[0.0002002395,0.9844968,0.0008341282,0.00002829288,0.0007118362,0.01225185,0.000941042,0.0002534697,0.0002823483],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9629319,"threshold_uncertainty_score":0.9995689,"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."}}