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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. / van Wegberg, Annemiek M J; Trefz, Friedrich; Gizewska, Maria; Ahmed, Sibtain; Chabraoui, Layachi; Zaki, Maha S; Maillot, François; van Spronsen, Francjan J; Study Group on Missed PKU and Missed to Follow-Up.

in: J PEDIATR-US, Jahrgang 239, 12.2021, S. 231-234.e2.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Kurzpublikation › Forschung › Begutachtung

Harvard

van Wegberg, AMJ, Trefz, F, Gizewska, M, Ahmed, S, Chabraoui, L, Zaki, MS, Maillot, F, van Spronsen, FJ & Study Group on Missed PKU and Missed to Follow-Up 2021, 'Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey', J PEDIATR-US, Jg. 239, S. 231-234.e2. https://doi.org/10.1016/j.jpeds.2021.08.070

APA

van Wegberg, A. M. J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M. S., Maillot, F., van Spronsen, F. J., & Study Group on Missed PKU and Missed to Follow-Up (2021). Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. J PEDIATR-US, 239, 231-234.e2. https://doi.org/10.1016/j.jpeds.2021.08.070

Vancouver

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS et al. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. J PEDIATR-US. 2021 Dez;239:231-234.e2. https://doi.org/10.1016/j.jpeds.2021.08.070

Bibtex

@article{511137163c714c13aaaa00a6edacb462,
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 = "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, Humans, Infant, Infant, Newborn, Male, Neonatal Screening/organization & administration, Phenylketonurias/diagnosis, Young Adult",
author = "{van Wegberg}, {Annemiek M J} and Friedrich Trefz and Maria Gizewska and Sibtain Ahmed and Layachi Chabraoui and Zaki, {Maha S} and Fran{\c c}ois Maillot and {van Spronsen}, {Francjan J} and {Study Group on Missed PKU and Missed to Follow-Up} and Gwendolyn Gramer",
note = "Brief Report",
year = "2021",
month = dec,
doi = "10.1016/j.jpeds.2021.08.070",
language = "English",
volume = "239",
pages = "231--234.e2",
journal = "J PEDIATR-US",
issn = "0022-3476",
publisher = "Mosby Inc.",

}

RIS

TY - JOUR

T1 - Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

AU - van Wegberg, Annemiek M J

AU - Trefz, Friedrich

AU - Gizewska, Maria

AU - Ahmed, Sibtain

AU - Chabraoui, Layachi

AU - Zaki, Maha S

AU - Maillot, François

AU - van Spronsen, Francjan J

AU - Study Group on Missed PKU and Missed to Follow-Up

AU - Gramer, Gwendolyn

N1 - Brief Report

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 - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Delayed Diagnosis/statistics & numerical data

KW - Emigrants and Immigrants

KW - Female

KW - Global Health

KW - Health Care Surveys

KW - Health Policy

KW - Health Services Accessibility/organization & administration

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Neonatal Screening/organization & administration

KW - Phenylketonurias/diagnosis

KW - Young Adult

U2 - 10.1016/j.jpeds.2021.08.070

DO - 10.1016/j.jpeds.2021.08.070

M3 - Short publication

C2 - 34474089

VL - 239

SP - 231-234.e2

JO - J PEDIATR-US

JF - J PEDIATR-US

SN - 0022-3476

ER -