{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T16:24:30Z","timestamp":1777134270422,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,12,12]],"date-time":"2008-12-12T00:00:00Z","timestamp":1229040000000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Pompe disease (glycogen storage disease II, OMIM # 232300), is a hereditary lysosomal disorder. It is characterized by deficiency of acid alpha\u2010glucosidase enzyme (acid maltase, GAA, OMIM *606800, EC 3.1.26.2), secondary to mutations in the <jats:italic>GAA<\/jats:italic> gene (HGNC:4065) on chromosome 17q25.2\u2010q25.3. Absent enzyme activity in the infantile form of Pompe disease results in abnormal glycogen deposition in the skeletal, cardiac, and smooth muscles, leading to hypertrophic cardiomyopathy, feeding abnormalities, hypotonia, weakness, respiratory insufficiency, and ultimately death. Prenatal diagnosis is accomplished by enzyme assay, mutation analysis or electron microscopy of amniotic fluid cells or chorionic villus sample. However, these techniques may not always be available, and can result in perinatal morbidity and fetal loss. Early diagnosis of Pompe disease results in early institution of enzyme replacement therapy (ERT), which minimizes morbidity and prolongs survival. We report the case of a 35\u2010week part\u2010of\u2010twin neonate, whose older sibling died earlier because of infantile Pompe disease. At 32 weeks of gestation, fetal echocardiography showed hypertrophic cardiomyopathy in twin 1, which persisted until birth at 35 weeks of gestation. Diagnosis was confirmed after birth by enzyme assay, and mutation analysis showing homozygosity for the sequence change 1327\u20132A&gt;G (GAA intr 8). Administration of ERT at 18 h of age, resulted in normalization of cardiac abnormalities within 21 weeks of therapy, and normal neurodevelopmental assessment at 46 weeks, using Griffiths Mental Development Scales. To our knowledge, this is the youngest patient reported to receive ERT for Pompe disease, and the first report of prenatal diagnosis of Pompe disease by fetal echocardiography.<\/jats:p>","DOI":"10.1007\/s10545-008-1000-0","type":"journal-article","created":{"date-parts":[[2008,12,9]],"date-time":"2008-12-09T08:10:40Z","timestamp":1228810240000},"page":"431-436","source":"Crossref","is-referenced-by-count":20,"title":["Early administration of enzyme replacement therapy for Pompe disease: Short\u2010term follow\u2010up results"],"prefix":"10.1002","volume":"31","author":[{"given":"M. A.","family":"Hamdan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tawam\u2010Johns Hopkins Hospital PO Box 15258 Tawam Street Al Ain Abu Dhabi 15258 United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. H.","family":"Almalik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tawam\u2010Johns Hopkins Hospital PO Box 15258 Tawam Street Al Ain Abu Dhabi 15258 United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. M.","family":"Mirghani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine and Health Sciences UAE University Al Ain Abu Dhabi United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,12,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/heart.83.3.367"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000195896.04069.5f"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.82.5.594"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120601169469"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.707661"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70384-7"},{"key":"e_1_2_7_9_1","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000204462.42910.b8"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198404193101604"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199507000-00018"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)32171-5"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e318162eb53"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000023900.58293.FE"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-004-0620-3"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1000-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-1000-0","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1000-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:23:51Z","timestamp":1694751831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-1000-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":20,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-1000-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-1000-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12]]}}}