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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi prov...

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Detalles Bibliográficos
Autores principales: Zhang, Ruixue, Qiang, Rong, Song, Chengrong, Ma, Xiaoping, Zhang, Yan, Li, Fengxia, Wang, Rui, Yu, Wenwen, Feng, Mei, Yang, Lihui, Wang, Xiaobin, Cai, Na
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846761/
https://www.ncbi.nlm.nih.gov/pubmed/33514801
http://dx.doi.org/10.1038/s41598-021-81897-y