Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

Direct mutation analysis is the major method for glutaric acidemia I (GA-I) prenatal diagnosis, while systemic application of a biochemical strategy is rare. We describe our experiences with metabolite measurement together with mutation analysis in GA-I prenatal diagnosis at a single center over 10...

Full description

Bibliographic Details
Main Authors: Bing Xiao, Wenjuan Qiu, Jun Ye, Huiwen Zhang, Hong Zhu, Lei Wang, Lili Liang, Feng Xu, Ting Chen, Yan Xu, Yongguo Yu, Xuefan Gu, Lianshu Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Genetics
Subjects:
glutaric acidemia I
prenatal diagnosis
glutarylcarnitine
glutaric acid
mass spectrometry
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00496/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00496/full

Similar Items