Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.

Abstract excerpt

To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. Of these, 57 newborn babies were referred for genetic analysis by next-generation sequencing, which was validated by Sanger sequencing. A total of 36 newborn babies...

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