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Development of Newborn Screening for Pompe Disease

by Wuh-Liang Hwu 1,2,* and Yin-Hsiu Chien 1,2
1
Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan
2
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 5; https://doi.org/10.3390/ijns6010005
Received: 28 December 2019 / Accepted: 22 January 2020 / Published: 24 January 2020
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
Note: In lieu of an abstract, this is an excerpt from the first page.

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

Hwu, W.-L.; Chien, Y.-H. Development of Newborn Screening for Pompe Disease. Int. J. Neonatal Screen. 2020, 6, 5.

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