Associated Papers
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Dijkstra AM et al.
International Journal of Neonatal Screening, 2023
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K et al.
Journal of Inherited Metabolic Disease, 2023
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
van Vliet D et al.
Jimd Reports, 2015
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