Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
Détails
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_88FE7A47B322
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
Périodique
The Journal of pediatrics
Collaborateur⸱rice⸱s
Study Group on Missed PKU and Missed to Follow-Up
Contributeur⸱rice⸱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
Statut éditorial
Publié
Date de publication
12/2021
Peer-reviewed
Oui
Volume
239
Pages
231-234.e2
Langue
anglais
Notes
Publication types: Case Reports
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
Mots-clé
NBS, immigrant, late diagnosis, phenylketonuria, refugee
Pubmed
Web of science
Open Access
Oui
Création de la notice
10/12/2021 8:27
Dernière modification de la notice
20/08/2024 6:31
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