Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2016_537
Reference25 articles.
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2. Chace DH, DiPerna JC, Kalas TA et al (2001) Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 47:2040–2044
3. Cornel MC, Rigter T, Weinreich SS et al (2014) A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document. Eur J Hum Genet 22:12–17
4. Couce ML, Castiñeiras DE, Bóveda MD et al (2011) Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. Mol Genet Metab 104(4):470–475
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