Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

BACKGROUND: Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal diagnosis of PA, we conducted a retrospective study of our 11-year experiences...

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Detalles Bibliográficos
Autores principales: Dai, Mengyao, Xiao, Bing, Zhang, Huiwen, Ye, Jun, Qiu, Wenjuan, Zhu, Hong, Wang, Lei, Liang, Lili, Zhan, Xia, Ji, Wenjun, Wang, Yu, Yu, Yongguo, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539428/
https://www.ncbi.nlm.nih.gov/pubmed/33028371
http://dx.doi.org/10.1186/s13023-020-01539-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539428/
https://www.ncbi.nlm.nih.gov/pubmed/33028371
http://dx.doi.org/10.1186/s13023-020-01539-w

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