| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8313384 | Clinica Chimica Acta | 2013 | 5 Pages |
Abstract
The method was developed to allow direct re-analysis of samples showing elevated concentrations of C5-acylcarnitines in a metabolic screening program based on quantification of acylcarnitines after butylation. The technique should be especially useful in newborn screening for exclusion of false positives and for differentiation between isovaleric acidemia and 2-methylbutyryl-CoA dehydrogenase deficiency.
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Authors
Nils Janzen, Ulrike Steuerwald, Stefanie Sander, Michael Terhardt, Michael Peter, Johannes Sander,