The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency

Ukraine’s healthcare system has shown remarkable resilience in continuing newborn screening (NBS), beyond the challenges of war. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SCID)–purine nucleoside phosphorylase (PNP) deficiency. Uk...

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Bibliografske podrobnosti

Principais autores:	Alessandra Bettiol, Roberta Damiano, Nataliia Mytsyk, Nataliia Samonenko, Gabriella Cericola, Carsten Speckmann, Nataliia Olkhovich, Renzo Guerrini, Giancarlo la Marca
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2025-09-01
Serija:	International Journal of Neonatal Screening
Teme:	newborn screening purine nucleoside phosphorylase deficiency severe combined immunodeficiency war public health tandem mass spectrometry
Online dostop:	https://www.mdpi.com/2409-515X/11/3/79
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