{"id":"W4210677383","doi":"10.1016/j.ymgme.2021.11.070","title":"In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease","year":2022,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Enzyme replacement therapy; In utero; Medicine; Disease; Fetus; Pediatrics; Internal medicine; Pregnancy; Biology; Genetics","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":[0.0002072555,0.0003786882,0.0006090071,0.0005794181,0.001082017,0.0004089729,0.0005271482,0.001941809,0.001465438],"category_scores_gemma":[0.002071414,0.0002142576,0.0004341257,0.0002157942,0.0007786917,0.0002822711,0.0003682324,0.001553487,0.0002601584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007824121,"about_ca_system_score_gemma":0.000615855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003209751,"about_ca_topic_score_gemma":0.002704383,"domain_scores_codex":[0.9998688,0.00002289555,0.00001555952,0.00002975939,0.00002443982,0.00003853859],"domain_scores_gemma":[0.9993739,0.000350709,0.0000546712,0.00003009152,0.00002434804,0.0001664341],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003762945,0.00007647525,0.005701793,0.00001972317,0.00001247916,0.9837991,0.0001877204,0.0001680484,0.003587982,0.0004211757,0.0002728306,0.005376382],"study_design_scores_gemma":[0.00006308461,0.0008431681,0.01641882,0.00004828771,0.00007747162,0.9719196,0.0003676143,0.0008044615,0.00624588,0.0004678298,0.002717132,0.0000266893],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9793508,0.004233107,0.002327198,0.005452168,0.0005427396,0.00003621901,0.0002705258,0.00007955764,0.007707609],"genre_scores_gemma":[0.9947546,0.001607847,0.0008552226,0.0004358138,0.0002040486,0.00001015758,0.00009512511,0.0000178243,0.002019365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003209751,"threshold_uncertainty_score":0.006382108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01025188385070945,"score_gpt":0.2716773237145795,"score_spread":0.26142543986387,"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."}}