Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-007-0543-9
Reference16 articles.
1. Allardaa P, Grenierb A, Korson MS, et al (2004) Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 37: 1010–1015.
2. Chace DH, DiPerna JC, Kalas TA, et al (2001) Rapid diagnosis of methylmalonic and propionic acidemias: quantitive tandem mass spectrometry analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 47: 2040–2044.
3. Chace DH, Kalas TA (2005) A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem 38: 296–309.
4. Dott M, Chace D, Fierro M, et al (2006) Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: a population-based study. Am J Med Genet 140A: 837–842.
5. Frazier DM, Millington DS, McCandless SE, et al (2006) The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005. J Inherit Metab Dis 29: 76–85.
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