The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment-Reference-Cited by-同舟云学术

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

Published:2016-01-07 Issue:3 Volume:39 Page:409-414
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Ryder Bryony,Knoll Detlef,Love Donald R.,Shepherd Phillip,Love Jennifer M.,Reed Peter W.,de Hora Mark,Webster Dianne,Glamuzina Emma,Wilson Callum

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-015-9911-z/fulltext.html

Reference14 articles.

1. Andresen BS et al (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64:479–494

2. Boneh A et al (2006) VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet and Metab 88:166–70

3. Gabriel S, Ziaugra L, Tabbaa D (2009) SNP genotyping using the Sequenom MassARRAY iPLEX platform. Curr Protoc Hum Genet. 2.12.1-2.12.18

4. Hoffmann L et al (2012) VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. J Inherit Metab Dis 35:269–277

5. Liebig 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 118:1065

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