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

• मुख्य लेखकों: Congcong Shi (लेखक), Sitao Li (लेखक), Yu Gao (लेखक), Zhirong Deng (लेखक), Hu Hao (लेखक), Xin Xiao (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...