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...

詳細記述

書誌詳細

主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2025-02-01
シリーズ:	International Journal of Neonatal Screening
主題:	phenylketonuria newborn neonatal screening international survey
オンライン･アクセス:	https://www.mdpi.com/2409-515X/11/1/18
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