Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagn...
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
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Author / Creator
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 and Yang, Yanling
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 applicable to families with a definite genetic diagnosis. To eval...
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Full title
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
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TN_cdi_plos_journals_2645866853
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2645866853
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0265766
