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Št. zadetkov: 2
Overview of European practices for management of tyrosinemia type 1
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen, Urh Grošelj
Izvirni znanstveni članek
Oznake: tyrosinemia type 1;NTBC;nitisinone;management;guidelines;
The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment ofpatients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals haveshifted from emergency treatment to long-term care. To ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Evaluation of neonatal screening programs for tyrosinemia type 1 worldwide
Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema, Urh Grošelj, Barbka Repič-Lampret
Izvirni znanstveni članek
Oznake: tyrosinemia type 1;neonatal screening;dried blood spots;inborn metabolic disease;succinylacetone;tyrosine;
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 ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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