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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2024-03-01
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Series: | International Journal of Neonatal Screening |
Subjects: | |
Online Access: | https://www.mdpi.com/2409-515X/10/1/25 |