en
Scientific article
Open access
English

Undiagnosed phenylketonuria can exist everywhere : results from an international survey

CollaboratorsKern, Ilse
Published inThe journal of pediatrics, vol. 239, p. 231-234.e2
Publication date2021-12
First online date2021-08-30
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.

eng
Keywords
  • NBS
  • Immigrant
  • Late diagnosis
  • Phenylketonuria
  • Refugee
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Delayed Diagnosis / statistics & numerical data
  • Emigrants and Immigrants
  • Female
  • Global Health
  • Health Care Surveys
  • Health Policy
  • Health Services Accessibility / organization & administration
  • Health Services Accessibility / statistics & numerical data
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening / organization & administration
  • Neonatal Screening / trends
  • Phenylketonurias / diagnosis
  • Young Adult
Citation (ISO format)
VAN WEGBERG, Annemiek M J et al. Undiagnosed phenylketonuria can exist everywhere : results from an international survey. In: The journal of pediatrics, 2021, vol. 239, p. 231–234.e2. doi: 10.1016/j.jpeds.2021.08.070
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal0022-3476
7views
2downloads

Technical informations

Creation10/03/2022 7:05:10 AM
First validation04/16/2024 9:00:24 AM
Update time04/16/2024 9:00:24 AM
Status update04/16/2024 9:00:24 AM
Last indexation04/16/2024 9:00:44 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack