Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy

• Published in: American journal of medical genetics. Part A Vol. 182; no. 4; pp. 721 - 729
• Main Authors: Yang, Chia‐Feng, Niu, Dau‐Ming, Tai, Shyh‐Kuan, Wang, Ting‐Hao, Su, Hsiao‐Ting, Huang, Ling‐Yi, Soong, Wen‐Jue
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.04.2020; Wiley Subscription Services, Inc
• Subjects: Age; airway abnormalities; Bronchoscopy; Bronchoscopy - methods; Child; Child, Preschool; Enzyme Replacement Therapy; Female; flexible bronchoscopy; Glycogen Storage Disease Type II - complications; Humans; Infant; Infant, Newborn; Male; Medical screening; Neonates; Patients; Pompe disease; Prognosis; Respiratory System Abnormalities - etiology; Respiratory System Abnormalities - pathology; Respiratory System Abnormalities - therapy; Respiratory tract; Retrospective Studies; Saliva; Pompe disease; flexible bronchoscopy; airway abnormalities

Early enzyme replacement therapy (ERT) improve long‐term outcomes in patients with infantile‐onset 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 2...