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

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

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...

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Veröffentlicht in:American journal of medical genetics. Part A 2020-04, Vol.182 (4), p.721-729
Hauptverfasser: Yang, Chia‐Feng, Niu, Dau‐Ming, Tai, Shyh‐Kuan, Wang, Ting‐Hao, Su, Hsiao‐Ting, Huang, Ling‐Yi, Soong, Wen‐Jue
Format: Artikel
Sprache:eng
Schlagworte:
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
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Zusammenfassung: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 2018. By 2010, we had established rapid diagnostic strategies. Now, the average age of ERT initiation starts at an average age of
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61481