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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

  • Annemiek M J van Wegberg
  • Friedrich Trefz
  • Maria Gizewska
  • Sibtain Ahmed
  • Layachi Chabraoui
  • Maha S Zaki
  • François Maillot
  • Francjan J van Spronsen
  • Study Group on Missed PKU and Missed to Follow-Up

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.

Bibliografische Daten

OriginalspracheEnglisch
ISSN0022-3476
DOIs
StatusVeröffentlicht - 12.2021
Extern publiziertJa

Anmerkungen des Dekanats

Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

PubMed 34474089