المؤلفون: Bernstein L, Hansen J, Kogelmann C, Ellerbrok M, Gizewska M, Gaughan S, Rocha JC, Belanger A, Rohr F

المصدر: Nutrition and Dietary Supplements, Vol Volume 13, Pp 145-154 (2021)

مصطلحات موضوعية: pku, phenylketonuria, pegvaliase, medical nutrition therapy, Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/normalizing-diet-in-individuals-with-phenylketonuria-treated-with-pegv-peer-reviewed-fulltext-article-NDSTest; https://doaj.org/toc/1179-1489Test

الوصول الحر: https://doaj.org/article/4f3c913f902d439ebbe6af5a03bcabeeTest

المؤلفون: Cullinane, AR, Straatman-Iwanowska, A, Seo, JK, Ko, JS, Song, KS, Gizewska, M, Gruszfeld, D, Gliwicz, D, Tuysuz, B, Erdemir, G, Sougrat, R, Wakabayashi, Y, Hinds, R, Barnicoat, A, Mandel, H, Chitayat, D, Fischler, B, Garcia-Cazorla, A, Knisely, AS, Kelly, DA, Maher, ER, Gissen, P

المصدر: Human mutation. 30(2):E330-E337

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:120988997Test

المؤلفون: MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

وصف الملف: application/pdf

العلاقة: 1750-1172; PURE: 20224806

الإتاحة: http://hdl.handle.net/10362/105898Test

المؤلفون: Pinto, A, Ahring, K, Almeida, MF, Bélanger-Quintana, A, Burlina, A, Daly, A, van Dam, E, Feillet, F, Giżewska, M, Gökmen-Özel, H, Hoekstra, Y, Ilgaz, F, Leśniak, A, Loro, C, Rocha, JC, Rodenburg, I, Spronsen, F van, MacDonald, A

المصدر: Molecular Genetics and Metabolism ; volume 141, page 108394 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108394Test
https://api.elsevier.com/content/article/PII:S1096719224003251?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224003251?httpAccept=text/plainTest

المؤلفون: 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 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., Grunert 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., Ounap 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.

المساهمون: 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 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., Grunert 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., Ounap 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.

مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

الإتاحة: https://doi.org/10.1016/j.jpeds.2021.08.070Test
https://hdl.handle.net/11585/928082Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

المؤلفون: MacDonald, A., Van Wegberg, A. M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., Van Spronsen, F. J.

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

مصطلحات موضوعية: Diet, Guidelines, Phenylketonuria, PKU, Recommendations, Treatment, Genetics(clinical), Pharmacology (medical)

وصف الملف: application/pdf

العلاقة: 1750-1172; PURE: 18994666

الإتاحة: http://hdl.handle.net/10362/100821Test

المؤلفون: Evers, R. A. F., van Wegberg, A. M. J., Ahring, K., Beblo, S., Belanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Gizewska, M., Huijbregts, S. C. J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. K., MacDonald, A., van Spronsen, F. J.

المصدر: Evers , R A F , van Wegberg , A M J , Ahring , K , Beblo , S , Belanger-Quintana , A , Bosch , A M , Burlina , A , Campistol , J , Coskun , T , Feillet , F , Gizewska , M , Huijbregts , S C J , Kearney , S , Langeveld , M , Leuzzi , V , Maillot , F , Muntau , A C , Rocha , J C , Romani , C , Trefz , F K , MacDonald , A & van Spronsen , F ....

مصطلحات موضوعية: Phenylketonuria, Tetrahydrobiopterin, Survey, International

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/5937b96c-cd55-4631-a185-563f533c7e37Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.01.013Test
https://hdl.handle.net/11370/5937b96c-cd55-4631-a185-563f533c7e37Test
https://research.rug.nl/en/publications/5937b96c-cd55-4631-a185-563f533c7e37Test
https://pure.rug.nl/ws/files/177951681/1_s2.0_S1096719221000330_main.pdfTest

المؤلفون: Evers, R A F, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Bosch, A M, Burlina, A, Campistol, J, Coskun, T, Feillet, F, Giżewska, M, Huijbregts, S C J, Kearney, S, Langeveld, M, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F K, MacDonald, A, van Spronsen, F J

وصف الملف: text

العلاقة: https://publications.aston.ac.uk/id/eprint/42356/1/1_s2.0_S1096719221000330_main.pdfTest; Evers, R A F, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Bosch, A M, Burlina, A, Campistol, J, Coskun, T, Feillet, F, Giżewska, M, Huijbregts, S C J, Kearney, S, Langeveld, M, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C , Trefz, F K, MacDonald, A and van Spronsen, F J (2021). Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. Molecular genetics and metabolism, 132 (4), pp. 215-219.

الإتاحة: https://publications.aston.ac.uk/id/eprint/42356Test/
https://publications.aston.ac.uk/id/eprint/42356/1/1_s2.0_S1096719221000330_main.pdfTest

المؤلفون: 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, .

المصدر: The Journal of Pediatrics , 239 231-234.e2. (2021)

مصطلحات موضوعية: NBS, immigrant, late diagnosis, phenylketonuria, refugee

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10138441/1/Baruteau_Undiagnosed%20Phenylketonuria%20Can%20Exist%20Everywhere-%20Results%20From%20an%20International%20Survey_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10138441Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10138441/1/Baruteau_Undiagnosed%20Phenylketonuria%20Can%20Exist%20Everywhere-%20Results%20From%20an%20International%20Survey_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10138441Test/

المؤلفون: 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

المصدر: Journal of Pediatrics, 239, 231 - 234.e2 (2021)

مصطلحات موضوعية: immigrant, late diagnosis, NBS, phenylketonuria, refugee, phenylalanine, adolescent, adult, Article, asymptomatic disease, autism, child, developmental delay, epilepsy, Europe, false negative result, family, female, health program, health survey, human, inborn error of metabolism, infant, major clinical study, male, missed diagnosis, newborn, newborn screening, North America, Pacific islands, patient referral, questionnaire, symptom, Syrian Arab Republic, delayed diagnosis, global health, health care delivery, health care policy, health care survey, migrant, organization and management, preschool child, young adult, Adolescent, Adult, Child, Child, Preschool, Delayed Diagnosis, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, Phenylketonurias, Young Adult, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:0022-3476; urn:issn:1097-6833

الوصول الحر: https://orbi.uliege.be/handle/2268/312112Test