[HTML][HTML] Newborn screening: Taiwanese experience

YH Chien, WL Hwu, NC Lee - Annals of Translational Medicine, 2019 - ncbi.nlm.nih.gov
… the benefits of early diagnosis and early treatment with … In 2008, we first reported NBS for
Pompe disease in Taiwan … , a group of possible later-onset Pompe disease (LOPD) patients (3). …

Newborn screening for Pompe disease

…, Pompe Disease Newborn Screening Working … - …, 2017 - publications.aap.org
… of early detection and identification of serious conditions in … significantly to the feasibility of
NBS for Pompe disease, such as … NBS in Taiwan resulted in identification of 9 cases of classic …

Mass spectrometry but not fluorimetry distinguishes affected and pseudodeficiency patients in newborn screening for Pompe disease

HC Liao, MJ Chan, CF Yang, CC Chiang… - Clinical …, 2017 - academic.oup.com
… the feasibility of newborn screening for Pompe disease based … the importance of early
diagnosis for optimal treatment with … Taiwan is also screening most newborns for Pompe disease, …

Newborn screening for Pompe disease

T Sawada, J Kido, K Nakamura - … journal of neonatal screening, 2020 - mdpi.com
… be initiated as early as possible before irreversible damage … early identification of patients
with IOPD allows for very earlynewborns, accounting for almost 45% of newborns in Taiwan, …

Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: the necessity of adding a 2nd tier test for Pompe disease

SC Chiang, PW Chen, WL Hwu, AJ Lee… - … of Neonatal Screening, 2018 - mdpi.com
… shown to benefit from early diagnosis and early treatment [2,3]. … Taiwanese population, a
second-tier test for Pompe disease … it is possible to decrease the chance of identifying newborns

Very early treatment for infantile-onset Pompe disease contributes to better outcomes

CF Yang, CC Yang, HC Liao, LY Huang… - The Journal of …, 2016 - Elsevier
… Combining the results of the 2 Taiwanese-based newborn screeningearly as possible
before irreversible damage occurs. Our results indicate that an effective newborn screening

Development of newborn screening for Pompe disease

WL Hwu, YH Chien - International journal of neonatal screening, 2020 - mdpi.com
… A few patients in Taiwan were closely followed before and after … We demonstrated the
screening results [6], defined the … However, true multiplex newborn screening was made possible

The first year experience of newborn screening for Pompe disease in California

H Tang, L Feuchtbaum, S Sciortino, J Matteson… - … of neonatal screening, 2020 - mdpi.com
Pompe disease as a viable disorder to add to newborn … was implemented in Taiwan as early
as 2005 [20]. Since then, several … the findings from the first year of population-based Pompe

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening …

CF Yang, TWE Liao, YL Chu, LZ Chen… - Journal of Medical …, 2023 - jmg.bmj.com
… in the newborn screening (NBS) programme in Taiwan for PD… administering ERT as soon
as feasible and employing short-… Thus, our rapid diagnosis criteria for IOPD newborns showed …

[HTML][HTML] The modern face of newborn screening

YH Chien, WL Hwu - Pediatrics & Neonatology, 2023 - Elsevier
Pompe disease, first piloted in 2005 by NTUH NBS center, demonstrates that enzyme screening
using DBS in a population is feasible. … of newborn screening center of National Taiwan