Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Study Grp Missed PKU Missed Follo; Annemiek M. J. van Wegberg; Friedrich Trefz; Maria Gizewska; Sibtain Ahmed; Layachi Chabraoui; Maha S. Zaki; Francois Maillot; Francjan J. van Spronsen

doi:10.1016/j.jpeds.2021.08.070

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Study Grp Missed PKU Missed Follo, Annemiek M. J. van Wegberg, Friedrich Trefz, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, Francois Maillot, Francjan J. van Spronsen^*

^*Corresponding author for this work

Research output: Contribution to journal › Editorial › Academic › peer-review

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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.

Original language	English
Pages (from-to)	231-+
Number of pages	6
Journal	Journal of Pediatrics
Volume	239
DOIs	https://doi.org/10.1016/j.jpeds.2021.08.070
Publication status	Published - Dec-2021

Keywords

LATE-DIAGNOSED PHENYLKETONURIA
MANAGEMENT
CHILDREN
ADULTS
PKU

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@article{f1f2ede2d01d4f76aaf6196c8147a9ab,

title = "Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey",

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.",

keywords = "LATE-DIAGNOSED PHENYLKETONURIA, MANAGEMENT, CHILDREN, ADULTS, PKU",

author = "{Study Grp Missed PKU Missed Follo} and {van Wegberg}, {Annemiek M. J.} and Friedrich Trefz and Maria Gizewska and Sibtain Ahmed and Layachi Chabraoui and Zaki, {Maha S.} and Francois Maillot and {van Spronsen}, {Francjan J.}",

year = "2021",

month = dec,

doi = "10.1016/j.jpeds.2021.08.070",

language = "English",

volume = "239",

pages = "231--+",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "MOSBY-ELSEVIER",

}

TY - JOUR

T1 - Undiagnosed Phenylketonuria Can Exist Everywhere

T2 - Results From an International Survey

AU - Study Grp Missed PKU Missed Follo

AU - van Wegberg, Annemiek M. J.

AU - Trefz, Friedrich

AU - Gizewska, Maria

AU - Ahmed, Sibtain

AU - Chabraoui, Layachi

AU - Zaki, Maha S.

AU - Maillot, Francois

AU - van Spronsen, Francjan J.

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

KW - LATE-DIAGNOSED PHENYLKETONURIA

KW - MANAGEMENT

KW - CHILDREN

KW - ADULTS

KW - PKU

U2 - 10.1016/j.jpeds.2021.08.070

DO - 10.1016/j.jpeds.2021.08.070

M3 - Editorial

SN - 0022-3476

VL - 239

SP - 231-+

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Abstract

Keywords

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