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Mol Genet Metab. 2007 Sep-Oct;92(1-2):6-12. Epub 2007 Jul 2.

Newborn screening: After the thrill is gone.

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  • 1Department of Pediatrics, School of Medicine, University of Pittsburgh, and Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.


Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry has raised the stakes for specialists in metabolic medicine. New disorders and a broader clinical spectrum of disease call for new paradigms in approaching inborn errors of metabolism. The Society for Inherited Disorders has been at the forefront of advances in newborn screening for manyyears and faces new challenges in meeting new needs.

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