Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
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Abstract
To evaluate newborn screening (NBS) for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), we further characterized newborns with elevation of one or all C14-carnitine derivatives on NBS from a total of 90 338 newborns.
Bibliographical data
| Original language | German |
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| Article number | 4 |
| ISSN | 0022-3476 |
| Publication status | Published - 2010 |
| pubmed | 20547398 |
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