Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

BACKGROUND: The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China. We aimed to estimate the incidence and genetic variants of IEM and understand the spectrum of dise...

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Detalles Bibliográficos
Autores principales: Men, Shuai, Liu, Shuang, Zheng, Qin, Yang, Shuting, Mao, Huafen, Wang, Zhiwei, Gu, Ying, Tang, Xinxin, Wang, Leilei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265071/
https://www.ncbi.nlm.nih.gov/pubmed/36787440
http://dx.doi.org/10.1002/mgg3.2152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265071/
https://www.ncbi.nlm.nih.gov/pubmed/36787440
http://dx.doi.org/10.1002/mgg3.2152

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