Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to assess the epidemiology of the screened metabolic diseases and...

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Bibliographic Details
Main Authors:	Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho
Format:	Article
Language:	English
Published:	MDPI AG 2024-03-01
Series:	International Journal of Neonatal Screening
Subjects:	Portuguese neonatal screening program neonatal screening inborn errors of metabolism (IEM) second-tier testing (2TT)
Online Access:	https://www.mdpi.com/2409-515X/10/1/25

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