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Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to months of life in patients with classic infantile Pompe disease. Progression of the disease often leads to respiratory failure. Although sleep apnea is reported in late\u2010onset Pompe disease, sleep pathology is not well characterized in infantile disease. In this retrospective study, we analyzed nocturnal polysomnography results from 17 patients with infantile\u2010onset Pompe disease. Obstructive sleep apnea and hypoventilation were common among this cohort, even in those that did not have symptoms of sleep\u2010disordered breathing. All patients with infantile\u2010onset Pompe disease should undergo polysomnography as a routine part of their care. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36227","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T01:37:47Z","timestamp":1381541867000},"page":"3196-3200","source":"Crossref","is-referenced-by-count":31,"title":["Polysomnographic findings in infantile Pompe disease"],"prefix":"10.1002","volume":"161","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":"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"}]},{"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"}]}],"member":"311","published-online":{"date-parts":[[2013,10,2]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"The AASM Manual for the Scoring of Sleep and Associated Events: Rules, terminology, and technical specifications v.2","author":"Berry RB","year":"2012"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0334-08.2008"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.4065\/70.4.327"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0860011"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2008.06.012"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-1-4160-6645-3.00021-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-009-9252-x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_6_12_1","first-page":"91","article-title":"Control of upper airway motoneurons during REM sleep","volume":"13","author":"Kubin L","year":"1998","journal-title":"News Physiol Sci"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1983.54.3.773"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.7.1290"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107112"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0909859"},{"key":"e_1_2_6_18_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.36227","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T10:15:20Z","timestamp":1694686520000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,2]]},"references-count":17,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/ajmg.a.36227"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36227","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,2]]}}}