A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tan...
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A high-throughput nucleic acid-based method in newborn screening (NBS) has been shown to be fast and cost-effective in the early detection o...
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Full title
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
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TN_cdi_plos_journals_2785633675
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2785633675
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0283024
