Chace DH, Kalas T, Naylor EW (2003) Use of tandem mass spectrometry for multianalyte screening on dried blood specimens from newborns. Clin Chem 49: 1797–1817.
Hill JB, Summer GK, Pender MW, Roszel O (1965) An automated procedure for blood phenylalanine. Clin Chem 11: 541–546.
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.
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.
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.
Kwon C, Farrell PM (2000) The magnitude and challenge of false positive newborn screening test results. Arch Pediatr Adolesc Med 154: 714–718.
Millington DS (2002) Newborn screening for metabolic diseases: the second generation of newborn screening techniques. Am Sci 90: 40–48.
Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 13: 321–324.
O’Reilly L, Bross P, Corydon TJ, et al (2004) The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. Eur J Biochem 271: 4053–4063.
Schulze A, Lindner M, Kohlmüller K, Olgemöller K, Mayatepek E Hoffman F (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111: 1399–1406.
Smith WE, Millington DS, Koeberl DD, Lesser PS (2001) Glutaric acidaemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics 5: 1184–1187.
Van Hove JL, Zhang W, Kahler SG, et al (1993) Medium-chain acyl-CpA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 52: 958–966.
Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 23: 2304–2312.
Zytkovicz TH, Fitsgerald EF, Marsden D, et al (2001) Tandem mass spectrometric analysis for amino, organic and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47: 1945–1955.