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...

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Detalles Bibliográficos
Autores principales: Chiang, Shu-Chuan, Chien, Yin-Hsiu, Chang, Kai-Ling, Lee, Ni-Chung, Hwu, Wuh-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422994/
https://www.ncbi.nlm.nih.gov/pubmed/33073026
http://dx.doi.org/10.3390/ijns6020030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422994/
https://www.ncbi.nlm.nih.gov/pubmed/33073026
http://dx.doi.org/10.3390/ijns6020030

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