Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity

For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as a surrogate marker for the protein in dried blood...

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Bibliographic Details
Main Authors: Claire Klippel, Jiwoon Park, Sean Sandin, Tara M. L. Winstone, Xue Chen, Dennis Orton, Aranjeet Singh, Jonathan D. Hill, Tareq K. Shahbal, Emily Hamacher, Brandon Officer, John Thompson, Phi Duong, Tim Grotzer, Si Houn Hahn
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:International Journal of Neonatal Screening
Subjects:
Wilson Disease
Wiskott–Aldrich syndrome
X-linked agammaglobulinemia
adenosine deaminase deficiency
newborn screening
proteomics
Online Access:https://www.mdpi.com/2409-515X/11/1/6
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