Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
Details
Serval ID
serval:BIB_88FE7A47B322
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
Journal
The Journal of pediatrics
Working group(s)
Study Group on Missed PKU and Missed to Follow-Up
Contributor(s)
Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de Las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grünert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout CMA, MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Õunap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T., Rocha J.C., Rodrigues E., Saini A.G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz IVD, Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D.R., Sondheimer N., Sparkes R., Specola N., Stepien K.M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M.G., Vela-Amieva M., Verdaguer M.L., Vergano S.A., Vermeersch P., Vulturar R., Wagenmakers MAEM, Weinhold N., Williams A.B., Wilson W.G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.
ISSN
1097-6833 (Electronic)
ISSN-L
0022-3476
Publication state
Published
Issued date
12/2021
Peer-reviewed
Oui
Volume
239
Pages
231-234.e2
Language
english
Notes
Publication types: Case Reports
Publication Status: ppublish
Publication Status: ppublish
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
Pubmed
Web of science
Open Access
Yes
Create date
10/12/2021 9:27
Last modification date
10/11/2023 15:56
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