{"doi":"10.1056/nejmoa2200587","title":"In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease","abstract":"Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.","journal":"New England Journal of Medicine","year":2022,"id":233606,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":122,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9548,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":215251,"name":"Pranesh Chakraborty","orcid":null,"position":1,"is_corresponding":false},{"id":847752,"name":"Karen Fung‐Kee‐Fung","orcid":"0000-0001-6543-9215","position":2,"is_corresponding":false},{"id":439911,"name":"Marisa E. Schwab","orcid":"0000-0001-9217-1840","position":3,"is_corresponding":false},{"id":313812,"name":"Deeksha Bali","orcid":"0000-0003-2550-8073","position":4,"is_corresponding":false},{"id":313809,"name":"Sarah P. Young","orcid":"0000-0002-7671-016X","position":5,"is_corresponding":false},{"id":310980,"name":"Michael H. Gelb","orcid":"0000-0001-7000-5219","position":6,"is_corresponding":false},{"id":378262,"name":"Hamid Khaledi","orcid":"0000-0002-1319-7039","position":7,"is_corresponding":false},{"id":847753,"name":"Alicia DiBattista","orcid":"0000-0002-8783-5726","position":8,"is_corresponding":false},{"id":848725,"name":"Stacey Smallshaw","orcid":null,"position":9,"is_corresponding":false},{"id":847754,"name":"Felipe Moretti","orcid":"0000-0002-0532-6435","position":10,"is_corresponding":false},{"id":847755,"name":"Derek Wong","orcid":"0000-0002-1208-6249","position":11,"is_corresponding":false},{"id":848726,"name":"Catherine Lacroix","orcid":null,"position":12,"is_corresponding":false},{"id":627800,"name":"Dina El Demellawy","orcid":"0000-0003-1939-7338","position":13,"is_corresponding":false},{"id":584767,"name":"Kyle C. Strickland","orcid":"0000-0003-1636-5277","position":14,"is_corresponding":false},{"id":847756,"name":"Jane Lougheed","orcid":"0000-0003-3714-1301","position":15,"is_corresponding":false},{"id":552233,"name":"Anita J. Moon‐Grady","orcid":"0000-0003-3822-693X","position":16,"is_corresponding":false},{"id":687735,"name":"Billie R. Lianoglou","orcid":"0000-0002-2661-6642","position":17,"is_corresponding":false},{"id":847757,"name":"Paul Harmatz","orcid":"0000-0001-5603-2085","position":18,"is_corresponding":false},{"id":388008,"name":"Priya S. Kishnani","orcid":"0000-0001-8251-909X","position":19,"is_corresponding":false},{"id":322878,"name":"Tippi C. MacKenzie","orcid":"0000-0001-5232-809X","position":20,"is_corresponding":false},{"id":488218,"name":"Jennifer L. Cohen","orcid":"0000-0002-0385-1025","position":0,"is_corresponding":true}],"reference_count":29,"raw_metadata":null,"created_at":"2026-07-19T00:21:31.237180Z","pmid":"36351280","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}