Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening-Reference-Cited by-同舟云学术

Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening

Published:2017 Issue: Volume: Page:75-80
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Carling R. S.,Burden D.,Hutton I.,Randle R.,John K.,Bonham J. R.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_33

Reference10 articles.

1. Abdenur JE, Chamoles NA, Guinle AE et al (1998) False positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 21:624–630

2. Boemer F, Schoos R, de Halleux V et al (2014) Surprising causes of C5-carnitine false positive results in newborn screening. Mol Gen Metab 111:52–54

3. Bonham JR (2013) Impact of new screening technologies: should we screen and does phenotype influence this decision? J Inherit Metab Dis 36:681–686

4. Dewar S, Reed L, Koerner R (2014) Emerging clinical role of pivmecillinam in the treatment of urinary tract infection in the context of multidrug-resistant bacteria. J Antimicrob Chemother 69(2):303–308

5. Ensenauer R, Vockley J, Willard JM et al (2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75:1136–1142

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