Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

BACKGROUND: Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common organic aciduria in China, and prenatal diagnosis has contributed to its prevention. However, the prenatal diagnosis of MMA using cultured amniocytes or chorionic villi to detect gene mutations is exclusively app...

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Detalles Bibliográficos
Autores principales: Liu, Yupeng, Chen, Zhehui, Kang, Lulu, He, Ruxuan, Song, Jinqing, Liu, Yi, Shi, Chunyan, Chen, Junya, Dong, Hui, Zhang, Yao, Ma, Yanyan, Wu, Tongfei, Wang, Qiao, Ding, Yuan, Li, Xiyuan, Li, Dongxiao, Li, Mengqiu, Jin, Ying, Qin, Jiong, Yang, Yanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8970362/
https://www.ncbi.nlm.nih.gov/pubmed/35358224
http://dx.doi.org/10.1371/journal.pone.0265766

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