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

• Main Authors: Maria Miguel Gonçalves (Author), Ana Marcão (Author), Carmen Sousa (Author), Célia Nogueira (Author), Helena Fonseca (Author), Hugo Rocha (Author), Laura Vilarinho (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 disease...