Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

Currently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the biomarker. Although the sensitivity of the test is high, a high number of false positives is observed. Here, the aim is to evaluate the current Dutch newborn-screening protocol and to assess alterna...

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Bibliographic Details
Main Authors: Marelle J. Bouva, Allysa M. Kuypers, Evelien A. Kemper, Rose E. Maase, Annet M. Bosch, Francjan J. van Spronsen, Annemieke C. Heijboer, M. Rebecca Heiner-Fokkema, Sandra G. Heil, Anita Boelen
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:International Journal of Neonatal Screening
Subjects:
dried blood spot
newborn
neonatal screening
succinylacetone
tyrosinemia type 1
The Netherlands
Online Access:https://www.mdpi.com/2409-515X/11/2/35
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