Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid

Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases. However, some reports have demonstrated that mass spectrometry appro...

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Main Authors: Congcong Shi (Author), Sitao Li (Author), Yu Gao (Author), Zhirong Deng (Author), Hu Hao (Author), Xin Xiao (Author)
Format: Book
Published: Frontiers Media S.A., 2022-02-01T00:00:00Z.
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