Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9076-8
Reference15 articles.
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3. Maier EM, Pongratz J, Muntau AC et al (2009) Validation of MCADD newborn screening. Clin Genet 76:179–187
4. Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M (2008) Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. Am J Med Genet A 146A:610–619
5. Pandor A, Eastham J, Berverley C et al (2004) Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 8:1–152
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