International Journal of Neonatal Screening (Jan 2020)

Development of Newborn Screening for Pompe Disease

Wuh-Liang Hwu,
Yin-Hsiu Chien

Affiliations

Wuh-Liang Hwu: Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan
Yin-Hsiu Chien: Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan

DOI: https://doi.org/10.3390/ijns6010005
Journal volume & issue: Vol. 6, no. 1
p. 5

Abstract

Pompe disease is an inborn error of lysosomal degradation of glycogen. The responsible enzyme is acid alpha-glucosidase (GAA) [...]

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Published in International Journal of Neonatal Screening

ISSN: 2409-515X (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: https://www.mdpi.com/journal/ijns

About the journal