Implementation of population-based newborn screening reveals low incidence of spinal muscular atroph...
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
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Author / Creator
Kay, Denise M. , Stevens, Colleen F. , Parker, April , Saavedra-Matiz, Carlos A. , Sack, Virginia , Chung, Wendy K. , Chiriboga, Claudia A. , Engelstad, Kristin , Laureta, Emma , Farooq, Osman , Ciafaloni, Emma , Lee, Bo Hoon , Malek, Sohail , Treidler, Simona , Anziska, Yaacov , Delfiner, Leslie , Sakonju, Ai and Caggana, Michele
Publisher
New York: Nature Publishing Group US
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English
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Publisher
New York: Nature Publishing Group US
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Purpose
Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary molecular assay. SMA newborn screening was implemented in New York State (NYS) on 1 Octo...
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Full title
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
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TN_cdi_proquest_miscellaneous_2404371065
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2404371065
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0824-3
