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Targeted next generation sequencing for newborn screening of Menkes disease
PURPOSE: Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms. We sought to assess the an...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378272/ https://www.ncbi.nlm.nih.gov/pubmed/32714836 http://dx.doi.org/10.1016/j.ymgmr.2020.100625 |