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Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

PURPOSE: Prenatal diagnosis of fetal Mendelian disorders can benefit from non-invasive approaches using fetal cell-free DNA in maternal plasma. Detecting metabolic disorders before birth can result in immediate treatment post partum in order to optimize outcome. METHODS: We developed a mathematical...

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Detalles Bibliográficos
Autores principales:	Gu, Wei, Koh, Winston, Blumenfeld, Yair J., El-Sayed, Yasser Y., Hudgins, Louanne, Hintz, Susan R., Quake, Stephen R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079742/ https://www.ncbi.nlm.nih.gov/pubmed/24406457 http://dx.doi.org/10.1038/gim.2013.194

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