A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-C...
A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns
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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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Contents
Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation disorders due to the identification of additional milder, and so far silent, phenotypes. However, especially f...
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Full title
A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns
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TN_cdi_plos_journals_1291058588
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1291058588
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0006449
