Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide

In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is suboptimal. In search of optimization options, we...

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Bibliographic Details
Main Authors: Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:International Journal of Neonatal Screening
Subjects:
tyrosinemia type 1
neonatal screening
dried blood spots
inborn metabolic disease
succinylacetone
tyrosine
Online Access:https://www.mdpi.com/2409-515X/10/4/82
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