Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Study Group on Missed PKU and Missed to Follow-Up

doi:10.1016/j.jpeds.2021.08.070

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Study Group on Missed PKU and Missed to Follow-Up

Department of Pathology and Laboratory Medicine, Medical College, Pakistan

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

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 (US)
Pages (from-to)	231-234.e2
Journal	Journal of Pediatrics
Volume	239
DOIs	https://doi.org/10.1016/j.jpeds.2021.08.070
Publication status	Published - Dec 2021

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 16 Peace, Justice and Strong Institutions

Keywords

NBS
immigrant
late diagnosis
phenylketonuria
refugee

Access to Document

10.1016/j.jpeds.2021.08.070

Cite this

@article{942db103a7e545f089186cd3bc0f112b,

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 = "NBS, immigrant, late diagnosis, phenylketonuria, refugee",

author = "\{Study Group on Missed PKU and Missed to Follow-Up\} and \{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 K. Ahring and \{Al Mutairi\}, F. and Arnoux, \{J. B.\} and D. Ballhausen and J. Baruteau and L. Bernstein and S. Bijarnia-Mahay and F. Boemer and A. Bordugo and L. Brodosi and S. Brooks and Chew, \{H. B.\} and K. Chyz and M. Coker and C. Collingwood and V. Cornejo and Couce, \{M. L.\} and A. Cozens and S. Dahri and Das, \{A. M.\} and \{de Laet\}, C. and \{de las Heras Montero\}, J. and \{de Vreugd\}, A. and Debray, \{F. G.\} and M. Dercksen and M. Descartes and L. Diogo and E. Drogari and H. Eiroa and Eminoglu, \{F. T.\} and Enns, \{G. M.\} and F. Eyskens and F. Feillet and S. Ford and L. Franzson and P. Freisinger and P. Garcia and O. Grafakou and G. Gramer and S. Gray and U. Groselj and Gr{\"u}nert, \{S. C.\}",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = dec,

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

language = "English (US)",

volume = "239",

pages = "231--234.e2",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Undiagnosed Phenylketonuria Can Exist Everywhere

T2 - Results From an International Survey

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

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 - Ahring, K.

AU - Al Mutairi, F.

AU - Arnoux, J. B.

AU - Ballhausen, D.

AU - Baruteau, J.

AU - Bernstein, L.

AU - Bijarnia-Mahay, S.

AU - Boemer, F.

AU - Bordugo, A.

AU - Brodosi, L.

AU - Brooks, S.

AU - Chew, H. B.

AU - Chyz, K.

AU - Coker, M.

AU - Collingwood, C.

AU - Cornejo, V.

AU - Couce, M. L.

AU - Cozens, A.

AU - Dahri, S.

AU - Das, A. M.

AU - de Laet, C.

AU - de las Heras Montero, J.

AU - de Vreugd, A.

AU - Debray, F. G.

AU - Dercksen, M.

AU - Descartes, M.

AU - Diogo, L.

AU - Drogari, E.

AU - Eiroa, H.

AU - Eminoglu, F. T.

AU - Enns, G. M.

AU - Eyskens, F.

AU - Feillet, F.

AU - Ford, S.

AU - Franzson, L.

AU - Freisinger, P.

AU - Garcia, P.

AU - Grafakou, O.

AU - Gramer, G.

AU - Gray, S.

AU - Groselj, U.

AU - Grünert, S. C.

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 - NBS

KW - immigrant

KW - late diagnosis

KW - phenylketonuria

KW - refugee

UR - https://www.scopus.com/pages/publications/85118320261

U2 - 10.1016/j.jpeds.2021.08.070

DO - 10.1016/j.jpeds.2021.08.070

M3 - Article

C2 - 34474089

AN - SCOPUS:85118320261

SN - 0022-3476

VL - 239

SP - 231-234.e2

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Abstract

UN SDGs

Keywords

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