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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

  • Annemiek M.J. van Wegberg
  • , Friedrich Trefz
  • , Study Group on Missed PKU and Missed to Follow-Up
  • , Maria Gizewska
  • , Sibtain Ahmed
  • , Layachi Chabraoui
  • , Maha S. Zaki
  • , François Maillot
  • , Francjan J. van Spronsen*
  • , K. Ahring
  • , F. Al Mutairi
  • , J. B. Arnoux
  • , D. Ballhausen
  • *Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

16 Citations (Scopus)

Abstract

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

Original languageEnglish
Pages (from-to)231-234.e2
JournalJournal of Pediatrics
Volume239
DOIs
Publication statusPublished - Dec 2021

Bibliographical note

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© 2021 The Authors

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