{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T03:12:59Z","timestamp":1789269179809,"version":"build-2803163510"},"reference-count":28,"publisher":"BMJ","issue":"5","funder":[{"DOI":"10.13039\/501100007354","name":"Yen Tjing Ling Medical Foundation","doi-asserted-by":"publisher","award":["CI-111-29"],"award-info":[{"award-number":["CI-111-29"]}],"id":[{"id":"10.13039\/501100007354","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["V111C-102"],"award-info":[{"award-number":["V111C-102"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Science and Technology, Taiwan, Grant","award":["110-2628-B-075-010"],"award-info":[{"award-number":["110-2628-B-075-010"]}]},{"name":"Sanofi Co., Ltd","award":["C2107200"],"award-info":[{"award-number":["C2107200"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,9,2]]},"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Starting enzyme replacement therapy (ERT) before severe irreversible muscular damage occurs is important in infantile-onset Pompe disease (IOPD). This long-term follow-up study demonstrates our diagnostic and treatment strategies for IOPD and compares our clinical outcomes with those of other medical centres.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this long-term follow-up study, we analysed the outcomes of very early ERT with premedication hydrocortisone in patients with IOPD. Out of 1 228 539 infants screened between 1 January 2010 and 28 February 2021, 33 newborns had confirmed IOPD in Taipei Veterans General Hospital. Twenty-six were regularly treated and monitored at Taipei Veterans General Hospital. Echocardiographic parameters, biomarkers, IgG antibodies against alglucosidase alpha, pulmonary function variables and developmental status were all assessed regularly over an average follow-up duration of 6.18\u00b13.14 years. We compared the long-term treatment outcomes of our patients with those of other research groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The average age at ERT initiation was 9.75\u00b13.17 days for patients with classic IOPD. The average of the latest antialglucosidase alpha IgG titre was 669.23\u00b11159.23. All enrolled patients had normal heart sizes, motor milestones, cognitive function and pulmonary function that were near-normal to normal. Compared with patients in other studies, our patients had better outcomes in all aspects.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Very early ERT using our rapid diagnostic and treatment strategy enabled our patients with IOPD to have better outcomes than patients in other medical centres.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108675","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T13:25:54Z","timestamp":1663853154000},"page":"430-439","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5739-5216","authenticated-orcid":false,"given":"Chia-Feng","family":"Yang","sequence":"first","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan"},{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2345-0154","authenticated-orcid":false,"given":"Ting-Wei Ernie","family":"Liao","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan"},{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yen-Ling","family":"Chu","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan"},{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Zhen","family":"Chen","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan"},{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling-Yi","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"},{"name":"Department of Internal Medicine, Division of Nephrology, Taipei City Hospital Heping Fuyou Branch, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsui-Feng","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Chen","family":"Ho","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Min","family":"Kao","sequence":"additional","affiliation":[{"name":"Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan"},{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"2025100521273595000_60.5.430.1","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe\u2019s disease","volume":"372","author":"van der Ploeg","year":"2008","journal-title":"The Lancet"},{"key":"2025100521273595000_60.5.430.2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0506892102"},{"key":"2025100521273595000_60.5.430.3","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"2025100521273595000_60.5.430.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.053"},{"key":"2025100521273595000_60.5.430.5","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107112"},{"key":"2025100521273595000_60.5.430.6","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"2025100521273595000_60.5.430.7","article-title":"Earlier and higher dosing of 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