Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Study Group on Missed PKU and Missed to Follow-Up, M. Kreile (Member of the Working Group)

Research output: Contribution to journalArticlepeer-review

1 Citation (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
Number of pages6
JournalJournal of Pediatrics
Volume239
DOIs
Publication statusPublished - Dec 2021
Externally publishedYes

Keywords*

  • immigrant
  • late diagnosis
  • NBS
  • phenylketonuria
  • refugee

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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