Recent advances in newborn screening
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-007-0538-6
Reference37 articles.
1. Allard P, Grenier A, Korson MS, Zytkovicz TH (2004) Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 37: 1010–1015.
2. American College of Medical Genetics Newborn Screening Panel (2006) Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics 117: S296–S307.
3. Andresen BS, Dobrowolski SF, O’Reilly L, et al (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68: 1408–1418.
4. Bhattacharya K, Khalili V, Wiley V, Wilcken B (2006) Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis 29: 586.
5. Boneh A, Andresen BS, Gregersen N, et al (2006) VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 88: 166–170.
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