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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Publicado en:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7846761/
https://ncbi.nlm.nih.gov/pubmed/33514801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-81897-y
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