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 …
as feasible and employing short-… Thus, our rapid diagnosis criteria for IOPD newborns showed …
[HTML][HTML] 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 …
screening results [6], defined the … However, true multiplex newborn screening was made possible …
[HTML][HTML] 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 early … newborns, accounting for almost 45% of newborns in Taiwan, …
with IOPD allows for very early … newborns, accounting for almost 45% of newborns in Taiwan, …
[HTML][HTML] 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 …
as 2005 [20]. Since then, several … the findings from the first year of population-based Pompe …
[HTML][HTML] The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
SC Chiang, YH Chien, KL Chang, NC Lee… - … of Neonatal Screening, 2020 - mdpi.com
… newborn screening (NBS) for Pompe disease [1] since 2005, and our results demonstrate that
the early initiation of treatment … as early as possible to achieve the best treatment outcome. …
the early initiation of treatment … as early as possible to achieve the best treatment outcome. …
[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 …
using DBS in a population is feasible. … of newborn screening center of National Taiwan …
[HTML][HTML] Outcome of later-onset Pompe disease identified through newborn screening
NC Lee, KL Chang, SLM In't Groen, DOS de Faria… - The Journal of …, 2022 - Elsevier
… , 6MWT, 21 , 22 and Taiwanese student physical fitness tests are … Nevertheless, we cannot
use these early signs as criteria for … GAA variant database, 10 our present findings show that …
use these early signs as criteria for … GAA variant database, 10 our present findings show that …
[HTML][HTML] Is newborn screening the ultimate strategy to reduce diagnostic delays in Pompe disease? The parent and patient perspective
R Saich, R Brown, M Collicoat, C Jenner… - … of neonatal screening, 2020 - mdpi.com
… of early identification via NBS and early initiation of ERT … is to keep Pompe babies as well
as possible with the technology … Taiwanese NBS program, 473,738 newborns were screened …
as possible with the technology … Taiwanese NBS program, 473,738 newborns were screened …
[HTML][HTML] Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
… Pompe disease is very helpful to sort out affected by the relatively large number of
pseudodeficiency samples we find in Taiwan. … here that newborn screening for MPS 4A is feasible …
pseudodeficiency samples we find in Taiwan. … here that newborn screening for MPS 4A is feasible …
[HTML][HTML] Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
… Taiwan has had a newborn screening program for Pompe disease since 2005, and we followed
all patients detected by … in the newborn screening group revealed normal results. During …
all patients detected by … in the newborn screening group revealed normal results. During …