{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T02:54:17Z","timestamp":1790736857685,"version":"4.1.0"},"reference-count":21,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,7,1]]},"abstract":"<jats:p>OBJECTIVE. Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid \u03b1-glucosidase activity and results in progressive, debilitating, and often life-threatening symptoms involving the musculoskeletal, respiratory, and cardiac systems. Recently, enzyme replacement therapy with alglucosidase \u03b1 has become possible, but the best outcomes in motor function have been achieved when treatment was initiated early. The aim of this study was to test the feasibility of screening newborns in Taiwan for Pompe disease by using a fluorometric enzymatic assay to determine acid \u03b1-glucosidase activity in dried blood spots.<\/jats:p>\n                  <jats:p>METHODS. We conducted a large-scale newborn screening pilot program between October 2005 and March 2007. The screening involved measuring acid \u03b1-glucosidase activity in dried blood spots of \u223c45% of newborns in Taiwan. The unscreened population was monitored as a control.<\/jats:p>\n                  <jats:p>RESULTS. Of the 132 538 newborns screened, 1093 (0.82%) repeat dried blood-spot samples were requested and retested, and 121 (0.091%) newborns were recalled for additional evaluation. Pompe disease was confirmed in 4 newborns. This number was similar to the number of infants who received a diagnosis of Pompe disease in the control group (n = 3); however, newborn screening resulted in an earlier diagnosis of Pompe disease: patients were &amp;lt;1 month old compared with 3 to 6 months old in the control group.<\/jats:p>\n                  <jats:p>CONCLUSIONS. To our knowledge, this is the first large-scale study to show that newborn screening for Pompe disease is feasible. Newborn screening allows for earlier diagnosis of Pompe disease and, thus, for assessment of the value of an earlier start of treatment.<\/jats:p>","DOI":"10.1542\/peds.2007-2222","type":"journal-article","created":{"date-parts":[[2008,6,2]],"date-time":"2008-06-02T20:55:36Z","timestamp":1212440136000},"page":"e39-e45","source":"Crossref","is-referenced-by-count":207,"title":["Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program"],"prefix":"10.1542","volume":"122","author":[{"given":"Yin-Hsiu","family":"Chien","sequence":"first","affiliation":[{"name":"Departments of Pediatrics"},{"name":"Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Chuan","family":"Chiang","sequence":"additional","affiliation":[{"name":"Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaokui Kate","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pathology, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Keutzer","sequence":"additional","affiliation":[{"name":"Pathology, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics"},{"name":"Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai-Chu","family":"Huang","sequence":"additional","affiliation":[{"name":"Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-An","family":"Chen","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Hwan","family":"Wu","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Hsin","family":"Huang","sequence":"additional","affiliation":[{"name":"Genzyme Corporation, Cambridge, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fu-Jen","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, China Medical University, Taichung, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Tsong","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics"},{"name":"Medical Genetics"},{"name":"Department of Pediatrics, China Medical University, Taichung, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2008,7,1]]},"reference":[{"key":"2021120905551050200_R1","unstructured":"Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3389\u20133420"},{"key":"2021120905551050200_R2","doi-asserted-by":"crossref","unstructured":"Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline [published correction appears in Genet Med. 2006;8(6):382]. Genet Med.2006;8(5):267\u2013288","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"2021120905551050200_R3","doi-asserted-by":"crossref","unstructured":"Kallwass H, Carr C, Gerrein J, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab.2007;90(4):449\u2013452","DOI":"10.1016\/j.ymgme.2006.12.006"},{"key":"2021120905551050200_R4","doi-asserted-by":"crossref","unstructured":"Kishnani PS, Corzo D, Nicolino M, et al. 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