Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

BACKGROUND: Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability of biochemical method for the prenatal diagnosis o...

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Detalles Bibliográficos
Autores principales: Chen, Ting, Liang, Lili, Zhang, Huiwen, Ye, Jun, Qiu, Wenjuan, Xiao, Bing, Zhu, Hong, Wang, Lei, Xu, Feng, Gong, Zhuwen, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945211/
https://www.ncbi.nlm.nih.gov/pubmed/33691766
http://dx.doi.org/10.1186/s13023-021-01762-z

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