Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

PURPOSE: Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). METHODS: We designed an assay for multiplex sequencing of 72 metabolic genes (RUSPseq) from newborn dried bl...

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Detalles Bibliográficos
Autores principales: Peng, Gang, Shen, Peidong, Gandotra, Neeru, Le, Anthony, Fung, Eula, Jelliffe-Pawlowski, Laura, Davis, Ronald W., Enns, Gregory M., Zhao, Hongyu, Cowan, Tina M., Scharfe, Curt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416784/
https://www.ncbi.nlm.nih.gov/pubmed/30209273
http://dx.doi.org/10.1038/s41436-018-0272-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416784/
https://www.ncbi.nlm.nih.gov/pubmed/30209273
http://dx.doi.org/10.1038/s41436-018-0272-5

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