Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening-Reference-Cited by-同舟云学术

Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening

Published:2012 Issue: Volume: Page:113-115
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Spiekerkoetter U.,Mueller M.,Sturm M.,Hofmann M.,Schneider D. T.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2012_129

Reference11 articles.

1. Arnold GL, Van Hove J, Freedenberg D et al (2009) A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96(3):85–90

2. 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(2):166–170

3. Ficicioglu C, Coughlin CR II, Bennett MJ et al (2010) Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr 156(3):492–494

4. German AWMF Guidelines (2011) German AWMF guidelines for the confirmation diagnosis of metabolic diseases identified by newborn screening (guideline no 027/021). http://www.awmf.org . Accessed 11 July 2011

5. Liebig M, Schymik I, Mueller M et al (2006) Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118(3):1065–1069

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