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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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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 |