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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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4079742/ https://ncbi.nlm.nih.gov/pubmed/24406457 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2013.194 |
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