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

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Název: Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey: Results From an International Survey
Autoři: van Wegberg, A.M.J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., van Spronsen, F.J., Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, François, 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, François-Guillaume, 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, C.M.A., 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, I.V.D., 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, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., Study Group on Missed PKU and Missed to Follow-Up
Přispěvatelé: Kern, Ilse, Study Group on Missed PKU and Missed to Follow-Up, 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., Lavigne, Christian
Zdroj: Journal of Pediatrics, 239, pp. 231-234.e2
The Journal of pediatrics, vol. 239, pp. 231-234.e2
Informace o vydavateli: Elsevier BV, 2021.
Rok vydání: 2021
Témata: health care delivery, Male, family, Delayed Diagnosis, phenylalanine, Study Group on Missed PKU and Missed to Follow-Up, NBS, immigrant, late diagnosis, phenylketonuria, refugee, health care survey, 1106 Human Movement and Sports Sciences, global health, Genetics & genetic processes, CHILDREN, Global Health, preschool child, Pediatrics, Health Services Accessibility, Health Services Accessibility / statistics & numerical data, Génétique & processus génétiques, 0302 clinical medicine, newborn, Phenylketonurias, Phenylketonuria, Neonatal Screening / trends, organization and management, LATE-DIAGNOSED PHENYLKETONURIA, delayed diagnosis, Child, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, child, adult, Health Policy, Pacific islands, symptom, Life sciences, Health Services Accessibility / organization & administration, health survey, 3. Good health, [SDV] Life Sciences [q-bio], developmental delay, Europe, Delayed Diagnosis / statistics & numerical data, female, health care policy, PKU, Child, Preschool, Sciences du vivant, NBS, immigrant, late diagnosis, phenylketonuria, refugee, health program, young adult, Female, Life Sciences & Biomedicine, Immigrant, Adult, Refugee, Adolescent, patient referral, autism, Emigrants and Immigrants, Article, Syrian Arab Republic, Young Adult, 03 medical and health sciences, Neonatal Screening, male, missed diagnosis, inborn error of metabolism, MANAGEMENT, false negative result, Humans, human, Neonatal Screening / organization & administration, Science & Technology, newborn screening, questionnaire, asymptomatic disease, Infant, Newborn, Infant, ADULTS, infant, major clinical study, 3213 Paediatrics, Late diagnosis, Phenylketonurias / diagnosis, migrant, adolescent, Health Care Surveys, North America, epilepsy, 1114 Paediatrics and Reproductive Medicine, Gastroenterology - Radboud University Medical Center
Popis: 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.
Druh dokumentu: Article
Other literature type
Popis souboru: application/pdf; application/zip
Jazyk: English
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2021.08.070
Přístupová URL adresa: http://www.jpeds.com/article/S0022347621008556/pdf
https://pubmed.ncbi.nlm.nih.gov/34474089
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244721
https://doi.org/10.1016/j.jpeds.2021.08.070
https://pure.eur.nl/en/publications/69e85643-a73c-40d0-a8b3-bd915b230a69
https://doi.org/10.1016/j.jpeds.2021.08.070
https://hdl.handle.net/11370/f1f2ede2-d01d-4f76-aaf6-196c8147a9ab
https://research.rug.nl/en/publications/f1f2ede2-d01d-4f76-aaf6-196c8147a9ab
https://doi.org/10.1016/j.jpeds.2021.08.070
https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1349/
https://discovery.ucl.ac.uk/id/eprint/10138441/
https://investigacion.usc.es/documentos/618f9d7e4fa218568b4db1de
https://pubmed.ncbi.nlm.nih.gov/34474089/
https://www.ncbi.nlm.nih.gov/pubmed/34474089
https://doi.org/10.1016/j.jpeds.2021.08.070
https://lirias.kuleuven.be/handle/20.500.12942/687343
https://doi.org/10.1016/j.jpeds.2021.08.070
https://hdl.handle.net/2066/244721
https://repository.ubn.ru.nl//bitstream/handle/2066/244721/244721.pdf
https://serval.unil.ch/resource/serval:BIB_88FE7A47B322.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_88FE7A47B322
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_88FE7A47B3224
https://univ-paris8.hal.science/hal-04943212v1/document
https://doi.org/10.1016/j.jpeds.2021.08.070
https://univ-paris8.hal.science/hal-04943212v1
https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext
https://hdl.handle.net/11585/928082
https://doi.org/10.1016/j.jpeds.2021.08.070
https://discovery-pp.ucl.ac.uk/id/eprint/10138441/
Rights: CC BY
Přístupové číslo: edsair.doi.dedup.....7348c15ff180e1571446dba681221c93
Databáze: OpenAIRE
Popis
Abstrakt: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.
ISSN:00223476
DOI:10.1016/j.jpeds.2021.08.070