The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zeala...
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment
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Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Very long chain acyl-CoA dehydrogenase deficiency (VLCADD, OMIM #201475) has been increasingly diagnosed since the advent of expanded newborn screening (NBS). Elevated levels of tetradecenoyl-L-carnitine (C14:1) in newborn screening blood spot samples are particularly common in New Zealand, however this has not translated into increased VLCADD clin...
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Full title
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment
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Record Identifier
TN_cdi_proquest_miscellaneous_1785752895
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1785752895
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9911-z
