International Survey on Phenylketonuria Newborn Screening

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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Main Authors: 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: Article
Language:English
Published: MDPI AG 2025-02-01
Series:International Journal of Neonatal Screening
Subjects:
phenylketonuria
newborn
neonatal
screening
international
survey
Online Access:https://www.mdpi.com/2409-515X/11/1/18
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