Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

Background: Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and different approaches have been applied to its prenatal diagnosis. However, systemic application of a biochemical strategy is rare. To evaluate its reliability and validity, we conducted a retrospective study of our ex...

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Detalles Bibliográficos
Autores principales: Ding, Si, Liang, Lili, Qiu, Wenjuan, Zhang, Huiwen, Xiao, Bing, Dong, Liping, Ji, Wenjun, Xu, Feng, Gong, Zhuwen, Gu, Xuefan, Wang, Lei, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280075/
https://www.ncbi.nlm.nih.gov/pubmed/35846131
http://dx.doi.org/10.3389/fgene.2022.898860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280075/
https://www.ncbi.nlm.nih.gov/pubmed/35846131
http://dx.doi.org/10.3389/fgene.2022.898860

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