Recent advances in newborn screening

@article{Wilcken2007RecentAI,
  title={Recent advances in newborn screening},
  author={Bridget Wilcken},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={30},
  pages={129-133}
}
The introduction of tandem mass spectrometry has unquestionably been the most striking recent advance in newborn screening. A single test is applied for the simultaneous diagnosis of a number of disorders, making it possible to screen for some disorders that might otherwise have seemed too rare. Current screening is for disorders of metabolism of amino acids, organic acids and fatty acids. Assay performance for detection of disorders appears very good, but rarity of disorders, varied… CONTINUE READING
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