{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T03:11:34Z","timestamp":1789269094753,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T00:00:00Z","timestamp":1424649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid \u03b1\u2010glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep\u2010disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile\u2010onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow\u2010up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37007","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T10:13:46Z","timestamp":1424686426000},"page":"858-861","source":"Crossref","is-referenced-by-count":17,"title":["Longitudinal polysomnographic findings in infantile Pompe disease"],"prefix":"10.1002","volume":"167","author":[{"given":"Sujay","family":"Kansagra","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Austin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"DeArmey","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoheb","family":"Kazi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M","family":"Kravitz","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"369\u2010e27","article-title":"Sleep\u2010related symptoms and sleep\u2010disordered breathing in adult Pompe disease","volume":"22","author":"Boentert M","year":"2014","journal-title":"Eur J Neurol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31321"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0860011"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-009-9252-x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36227"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.7.1290"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107112"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.168.12.954"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37007","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:27:24Z","timestamp":1696606044000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,23]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1002\/ajmg.a.37007"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37007","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,23]]}}}