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Several testing methods applicable to newborn screening using dried blood spots have been described and several are currently being tested in pilot screening programs. Although challenges remain, particularly in identification of the best strategy for follow\u2010up and management of later onset Pompe disease, these challenges can surely be overcome as they have been with other disorders added to the newborn screening panel. It is anticipated that the results of the several pilot programs currently ongoing or in the planning stages in the United States will provide the data necessary to recommend universal newborn screening for Pompe disease for all infants. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.31315","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T21:02:30Z","timestamp":1326834150000},"page":"8-12","source":"Crossref","is-referenced-by-count":19,"title":["Newborn screening for Pompe disease: An update, 2011"],"prefix":"10.1002","volume":"160C","author":[{"given":"Barbara K.","family":"Burton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,17]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"132","article-title":"Recombinant human acid \u03b1\u2010glucosidase enzyme therapy for infants with glycogen storage disease type II: Results of a phase I\/II clinical trial","volume":"3","author":"Amalfitano A","year":"2001","journal-title":"Genet Med"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200367"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2004.04.009"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3667"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.11.053"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0265-4"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0388"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.014"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00652.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0806809"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.164640"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799385"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2009.12.008"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.064915"},{"key":"e_1_2_7_21_1","unstructured":"ScottCR.2011. Personal Communication."},{"key":"e_1_2_7_22_1","first-page":"22","article-title":"Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: Application to newborn screening of Pompe, Fabry and Hurler diseases","volume":"48","author":"Spacil Z","year":"2011","journal-title":"Anal Chem"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5275-3"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000223891.82390.ad"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0922-9"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T19:56:50Z","timestamp":1694462210000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,17]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,2,15]]}},"alternative-id":["10.1002\/ajmg.c.31315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31315","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,17]]}}}