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Newborn screening: Taiwanese experience

Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that timely treatment can be applied. We describe the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent. We review and update the outcome of NBS-identified pa...

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Bibliografiska uppgifter
I publikationen:Ann Transl Med
Huvudupphovsmän: Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lee, Ni-Chung
Materialtyp: Artigo
Språk:Inglês
Publicerad: AME Publishing Company 2019
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642927/
https://ncbi.nlm.nih.gov/pubmed/31392193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.05.47
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