van Wegberg, AMJ;
Trefz, F;
Gizewska, M;
Ahmed, S;
Chabraoui, L;
Zaki, MS;
Maillot, F;
... Study Group on Missed PKU and Missed to Follow-Up, .; + view all
(2021)
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
The Journal of Pediatrics
, 239
231-234.e2.
10.1016/j.jpeds.2021.08.070.
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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.
| Type: | Article |
|---|---|
| Title: | Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jpeds.2021.08.070 |
| Publisher version: | https://doi.org/10.1016/j.jpeds.2021.08.070 |
| Language: | English |
| Additional information: | © 2021 The Authors. Published by Elsevier Inc. under a Creative Commons license (https://creativecommons.org/licenses/by/4.0/). |
| Keywords: | NBS, immigrant, late diagnosis, phenylketonuria, refugee |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10138441 |
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