Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

BACKGROUND: The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years. Here we report the first 70,000 newborns screened for Mucopolysaccharidosis (MPS) type 4A (Morquio syndrome) and other LSDs by an 8-plex ass...

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Detalles Bibliográficos
Autores principales: Chien, Yin-Hsiu, Lee, Ni-Chung, Chen, Pin-Wen, Yeh, Hui-Ying, Gelb, Michael H., Chiu, Pao-Chin, Chu, Shao-Yin, Lee, Chen-Hao, Lee, An-Ru, Hwu, Wuh-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6998831/
https://www.ncbi.nlm.nih.gov/pubmed/32014045
http://dx.doi.org/10.1186/s13023-020-1322-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6998831/
https://www.ncbi.nlm.nih.gov/pubmed/32014045
http://dx.doi.org/10.1186/s13023-020-1322-z

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