564
Views
5
CrossRef citations to date
0
Altmetric
Review Article

Metabolic screening for the newborn

&
Pages 6-8 | Published online: 20 Jul 2011

References

  • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338–343.
  • Rashed MS, Rahbeeni Z, Ozand PT. Application of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol 1999;23:183–193.
  • Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304–2312.
  • Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program. Clin Chem 2001;47:1945–1955.
  • American College of Medical Genetics. Newborn screening: towards a uniform screening panel and system. Genet Med 2006;8:1S–252S.
  • Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007;30:439–444.
  • Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening. Am J Hum Genet 2006;79:31–40.
  • Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Newborn Screening for Krabbe Disease: The New York State Model. Pediatr Neurol 2009;40:245–252.
  • Heringer J, Boy SPN, Ensenauer R et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 2010;68:743–752.
  • Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, Strobl MW, Scheibenreiter S, Muehl A and Stöckler-Ipsiroglu S. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol Genet Metab 2010;100:24–28.
  • Wilcken B. Newborn screening: How are we travelling, and where should we be going? J Inherit Metab Dis 2011;34:569–574.
  • Crosbie DC, Sugumar H, Simpson MA, Walker SP, Dewey HM, Reade MC. Late onset ornithine transcarbamylase deficiency: A potentially fatal yet treatable cause of coma. Crit Care Resusc 2009;11:222–227.
  • Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R. First manifestations of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period. Eur J Obstet Gynecol Reprod Biol 2010;149:228–229.
  • Mischler E, Farrell P, Bruns T et al. Neonatal screening for cystic fibrosis in Wisconsin. Wis Med J 1989;88:14–18.
  • Spiekerkoetter U, Bastin J, Gillingham M, Morris A, Wijburg F, Wilcken B. Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis 2010;33:555–561.
  • Pollitt RJ. Introducing new screens: Why are we all doing different things? J Inherit Metab Dis 2007;30:423–429.
  • Wilcken B. Expanded newborn screening: Reducing harm, assessing benefit. J Inherit Metab Dis 2010;33:S205–S210.
  • Loeber G. Develpment of a global neonatal screening database. Newborn Screening and Genetics Testing Symposium San Antonio Texas Nov 3–6, 2008. (http://www.aphl.org/conferences/proceedings/Pages/2008APHLNBSGTSymposium.aspx, accessed July 14th 2011).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.