International Survey on Phenylketonuria Newborn Screening

Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers...

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Bibliografske podrobnosti

Principais autores:	Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham, Urh Grošelj
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2025-02-01
Serija:	International Journal of Neonatal Screening
Teme:	phenylketonuria newborn neonatal screening international survey
Online dostop:	https://www.mdpi.com/2409-515X/11/1/18
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