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

Abstract excerpt

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 province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were...

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• Amino Acid Metabolism, Inborn Errors
• China
• High-Throughput Nucleotide Sequencing
• Incidence
• Infant, Newborn