{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:35:45Z","timestamp":1792460145823,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,9,4]],"date-time":"2010-09-04T00:00:00Z","timestamp":1283558400000},"content-version":"vor","delay-in-days":0,"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypertrophic cardiomyopathy (HCM) affects most infants with Pompe disease (PD), and may serve as a marker for its antenatal diagnosis (ANDx) by fetal echocardiography (FE). Fetuses diagnosed with HCM between 2006 and 2009 were included in this study. HCM, defined as Z\u2010score of mean left ventricular wall thickness (LVWT) and\/or mass (LVM) above 2, was detected in 5\/1,268 fetuses (0.39%) carried by 1,137 pregnant women referred for FE. Three fetuses (0.24%) had postnatal confirmation of PD. Their gestational age and fetal weight at diagnosis was (mean \u00b1 standard deviation) 31\u2009\u00b1\u20093.6 weeks and 1.9\u2009\u00b1\u20090.2 kg, respectively. Fetal Z\u2010score of LVM and LVWT was 3.8\u2009\u00b1\u20090.9 and 3.1\u2009\u00b1\u20090.6, respectively. Postnatally, acid \u03b1\u2010glucosidase (GAA) enzyme activity was nearly absent in all patients, 2 were homozygous for the mutation 1327\u20102A&gt;G in the <jats:italic>GAA<\/jats:italic> gene, and 1 was homozygous for 340insT. Enzyme replacement therapy (ERT) was initiated 4.9\u2009\u00b1\u20097.8 days after birth (range 2 h\u201314 days), and continued every 2 weeks. Two infants are alive at 4 and 31 months, and one died of aspiration pneumonia at 19 months. Cardiac hypertrophy resolved after 10\u201312 weeks of ERT in all patients, and none required any respiratory support. One patient had normal neurodevelopmental assessment at 25 months, and one had severe global delay at 15 months before death. ANDx of PD by FE is feasible based on fetal HCM. It promotes early initiation of ERT which may improve outcome in some patients. However, larger studies and longer follow\u2010ups are required.<\/jats:p>","DOI":"10.1007\/s10545-010-9179-2","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T07:04:32Z","timestamp":1283497472000},"page":"333-339","source":"Crossref","is-referenced-by-count":29,"title":["Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy"],"prefix":"10.1002","volume":"33","author":[{"given":"Mohamed A.","family":"Hamdan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tawam Hospital P.O. Box 15258 Al Ain, Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bushra A.","family":"El\u2010Zoabi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tawam Hospital P.O. Box 15258 Al Ain, Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muzibunnisa A.","family":"Begam","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Tawam Hospital Al Ain, Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisham 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":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed H.","family":"Almalik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tawam Hospital P.O. Box 15258 Al Ain, Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38982.704931.AE"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/heart.83.3.367"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000195896.04069.5f"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000139848.33468.22"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.03.015"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mop.0000245348.52960.11"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.82.5.594"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.741157"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120601169469"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.707661"},{"key":"e_1_2_10_13_1","first-page":"II12","article-title":"Fetal echocardiography: 20 years of progress","volume":"2","author":"Gardiner HM","year":"2001","journal-title":"Heart Suppl"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70384-7"},{"key":"e_1_2_10_15_1","doi-asserted-by":"crossref","unstructured":"HamdanMA AlmalikMH MirghaniHM(2008)Early administration of enzyme replacement therapy for Pompe disease: short\u2010term follow\u2010up results.J Inherit Metab Dis[Epub ahead of print]","DOI":"10.1007\/s10545-008-1000-0"},{"key":"e_1_2_10_16_1","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000204462.42910.b8"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198404193101604"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181b24e94"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199507000-00018"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.6115"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-008-9267-3"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)32171-5"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e318162eb53"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000023900.58293.FE"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-004-0620-3"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2597"},{"key":"e_1_2_10_33_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\/s10545-010-9179-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:20:46Z","timestamp":1694758846000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9179-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,4]]},"references-count":32,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-010-9179-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9179-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,4]]}}}