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Newborn screening for homocystinurias: Recent recommendations versus current practice

Rebecca Keller1,2, Petr Chrastina3, Markéta Pavlíková3,4

  • 1Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.

Journal of Inherited Metabolic Disease
|February 12, 2019
PubMed
Summary

Newborn screening (NBS) for homocystinurias varies globally, with many programs not using recommended markers or decision limits. Revising these limits and incorporating specific markers can improve NBS accuracy and efficiency.

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