The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0228-9
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3. Hoffmann GF, von Kries R, Klose D, et al (2004) Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr 163: 76–80.
4. Koeberl DD, Millington DS, Smith WE, et al (2003a) Evaluation of 3-methylcrotonyl CoA carboxylase deficiency detected by tandem mass spectrometry screening. J Inherit Metab Dis 26: 25–35.
5. Koeberl DD, Young SP, Gregerson N, et al (2003b) Rare disorders of metabolism with elevated butyryl- and isobutyrylcarnitine detected by tandem mass spectrometry screening. Pediatr Res 54: 219–223.
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