The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass...

Full description

Bibliographic Details
Main Authors: Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:International Journal of Neonatal Screening
Subjects:
infantile-onset Pompe disease
GAA sequencing
immune modulation therapy
enzyme replacement therapy
cross-reactive immunologic material
Online Access:https://www.mdpi.com/2409-515X/6/2/30

Internet

https://www.mdpi.com/2409-515X/6/2/30

Similar Items