{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:28:43Z","timestamp":1772252923535,"version":"3.50.1"},"reference-count":31,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,9,11]],"date-time":"2020-09-11T00:00:00Z","timestamp":1599782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","award":["11-CFCT-02"],"award-info":[{"award-number":["11-CFCT-02"]}],"id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a questionnaire. Among 20 subjects that reported one or more pregnancies, one subject conceived while on ERT and continued therapy through two normal pregnancies with worsening of weakness during pregnancy and improvement postpartum. While fertility was not affected, pregnancy may worsen symptoms, or cause initial symptoms to arise. Complications with pregnancy or birth were not higher, except for an increase in the rate of stillbirths (3.8% compared to the national average of 0.2\u20130.7%). Given small sample size and possible bias of respondents being only women who have been pregnant, further data may be needed to better analyze the effects of pregnancy on PD, and the effects of ERT on pregnancy outcomes.<\/jats:p>","DOI":"10.3390\/life10090194","type":"journal-article","created":{"date-parts":[[2020,9,11]],"date-time":"2020-09-11T09:05:16Z","timestamp":1599815116000},"page":"194","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Pregnancy Outcomes in Late Onset Pompe Disease"],"prefix":"10.3390","volume":"10","author":[{"given":"Ozlem","family":"Goker-Alpan","sequence":"first","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), 3702 Pender Dr, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vellore G.","family":"Kasturi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, Durham, NC 27710, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maninder K.","family":"Sohi","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), 3702 Pender Dr, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6957-6284","authenticated-orcid":false,"given":"Renuka P.","family":"Limgala","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), 3702 Pender Dr, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie L.","family":"Austin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, Durham, NC 27710, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tabitha","family":"Jennelle","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), 3702 Pender Dr, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Banikazemi","sequence":"additional","affiliation":[{"name":"Lysosomal Storage Disorders Center, New York Medical College, 503 Grasslands Road, Ste 200, Valhalla, NY 10591, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Duke University Medical Center, 905 S. 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