Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements

• Main Authors: Dietrich Matern (Author), Khaja Basheeruddin (Author), Tracy L. Klug (Author), Gwendolyn McKee (Author), Patricia U. Edge (Author), Patricia L. Hall (Author), Joanne Kurtzberg (Author), Joseph J. Orsini (Author)
• Format: Bog
• Udgivet: MDPI AG, 2024-01-01T00:00:00Z.
• Fag: article
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Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two-tiered strategy based on psychosine (PSY) as the...