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...

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Detalles Bibliográficos
Autores principales: Xiao, Bing, Qiu, Wenjuan, Ye, Jun, Zhang, Huiwen, Zhu, Hong, Wang, Lei, Liang, Lili, Xu, Feng, Chen, Ting, Xu, Yan, Yu, Yongguo, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251148/
https://www.ncbi.nlm.nih.gov/pubmed/32508882
http://dx.doi.org/10.3389/fgene.2020.00496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251148/
https://www.ncbi.nlm.nih.gov/pubmed/32508882
http://dx.doi.org/10.3389/fgene.2020.00496

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