{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T03:11:23Z","timestamp":1789269083637,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,18]],"date-time":"2020-01-18T00:00:00Z","timestamp":1579305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 108\u20102635\u2010B\u2010075\u2010004"],"award-info":[{"award-number":["MOST 108\u20102635\u2010B\u2010075\u2010004"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["VGH\u2010108\u2010B\u2010005"],"award-info":[{"award-number":["VGH\u2010108\u2010B\u2010005"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Early enzyme replacement therapy (ERT) improve long\u2010term outcomes in patients with infantile\u2010onset Pompe disease (IOPD). Our cohort of patients with IOPD at Taipei Veterans General Hospital (TVGH) joined Taiwan Pompe newborn screening program from 2008, testing more than one million newborns until 2018. By 2010, we had established rapid diagnostic strategies. Now, the average age of ERT initiation starts at an average age of &lt;10\u2009days\u2010old, the earliest group in the world. However, they still presented some airway problems. We present a retrospective study focused on airway abnormalities in these patients along 8\u2009years of observation. Fifteen patients with IOPD, who received very early treatment at a mean age of 8.94\u2009\u00b1\u20093.75\u2009days, underwent flexible bronchoscopy (FB) for dynamic assessment of the whole airway. Long\u2010term clinical outcomes and relevant symptoms of the upper airway were assessed. All patients in the study had varying degrees of severity of upper airway abnormalities and speech disorders. The three oldest children (Age 94, 93, and 88\u2009months, respectively) had poor movement of the vocal cords with reduced abduction and adduction and had silent aspiration of saliva through the glottis during respiration. This is the largest cohort study presented to date about airway abnormalities in very early treated patients with IOPD patients by FB. Despite very early treatment, we observed upper airway abnormalities in these IOPD patients. In IOPD, upper airway abnormalities seem inevitable over time. We suggest early and continuous monitoring for all IOPD patients, even with early and regular treatment.<\/jats:p>","DOI":"10.1002\/ajmg.a.61481","type":"journal-article","created":{"date-parts":[[2020,1,18]],"date-time":"2020-01-18T13:36:48Z","timestamp":1579354608000},"page":"721-729","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Airway abnormalities in very early treated infantile\u2010onset Pompe disease: A large\u2010scale survey by flexible bronchoscopy"],"prefix":"10.1002","volume":"182","author":[{"given":"Chia\u2010Feng","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan"},{"name":"School of Medicine, National Yang\u2010Ming University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau\u2010Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan"},{"name":"School of Medicine, National Yang\u2010Ming University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shyh\u2010Kuan","family":"Tai","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang\u2010Ming University Taipei Taiwan"},{"name":"Department of Otolaryngology Taipei Veterans General Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting\u2010Hao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan"},{"name":"School of Medicine, National Yang\u2010Ming University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao\u2010Ting","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Audiology and Speech Language Pathology Mackay Medical College Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling\u2010Yi","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4607-696X","authenticated-orcid":false,"given":"Wen\u2010Jue","family":"Soong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei Taiwan"},{"name":"School of Medicine, National Yang\u2010Ming University Taipei Taiwan"},{"name":"Children's Hospital, China Medical University Taichung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182174703"},{"issue":"4","key":"e_1_2_9_3_1","first-page":"271","article-title":"Infantile\u2010onset Pompe disease: Diagnosis and management","volume":"117","author":"Bay L. 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