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1دورية أكاديمية
المؤلفون: van Vliet, K., van Ginkel, W.G., Jahja, R., Daly, A., MacDonald, A., Santra, S., De Laet, C., Goyens, P.J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., van Hasselt, P.M., Wilcox, G., Morris, A.A.M., Jameson, E.A., de la Parra, A., Arias, C., Garcia, M.I., Cornejo, V., Bosch, A.M., Hollak, C.E.M., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., Hofstede, F.C., de Vries, M.C., Janssen, M.C.H., van der Ploeg, A.T., Langendonk, J.G., Huijbregts, S.C.J., van Spronsen, F.J.
المصدر: van Vliet , K , van Ginkel , W G , Jahja , R , Daly , A , MacDonald , A , Santra , S , De Laet , C , Goyens , P J , Vara , R , Rahman , Y , Cassiman , D , Eyskens , F , Timmer , C , Mumford , N , Gissen , P , Bierau , J , van Hasselt , P M , Wilcox , G , Morris , A A M , Jameson , E A , de la Parra , A , Arias , C ....
مصطلحات موضوعية: Amsterdam Neuropsychological Tasks, executive functions, neurocognitive outcome, phenylketonuria, social cognition, tyrosinemia type 1, TREATED PHENYLKETONURIA, ADULT PHENYLKETONURIA, NTBC TREATMENT, PHENYLALANINE, NITISINONE, INHIBITION, MANAGEMENT, PROFILE
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/cbf19ef0-8cf6-4720-97f5-e3dcfdf981f4Test
الإتاحة: https://doi.org/10.1002/jimd.12528Test
https://cris.maastrichtuniversity.nl/en/publications/cbf19ef0-8cf6-4720-97f5-e3dcfdf981f4Test -
2دورية أكاديمية
المؤلفون: Heard, JM, Bellettato, C, Lingen, C, Scarpa, M, Debray, FG, Nassogne, MC, van Coster, R, De Meirleir, L, Eyskens, F, Morava, E, Baric, I, Kozich, V, Lund, AM, Germain, D, Belmatoug, N, Guffon, N, Labrune, P, Gouya, L, De Lonlay, P, Schiff, M, Dobbelaere, D, Chabrol, B, Ploeckinger, U, Das, AM, Spiekerkoetter, U, Rutsch, F, Mohnike, K, Hahn, A, Kolker, S, Ullrich, K, Hennermann, J, Balogh, I, Bembi, B, Donati, MA, Gasperini, S, Parenti, G, Salviati, A, Vici, CD, Di Rocco, M, Cefalo, G, Burlina, A, Ceccarini, G, Federico, A, Van der Ploeg, A, Rubio-Gozalbo, ME, Van Spronsen, F, Visser, G, Bosch, A, Tangeraas, T, Sanderberg, S, Kiec-Wilk, B, Gaspar, AMSM, Martins, E, Silva, EMFR, Matos, LMDFD, Azevedo, O, Tansek, MZ, Couce-Pico, ML, Cazorla, AG, Azuara, LAE, Del Toro-Riera, M, Silva, MTG, Lajic, S, Darin, N, Deegan, P, Vijay, S, Chronopolou, E, Jones, S, Chakrapani, A, Hiwot, T
المصدر: Orphanet journal of rare diseases. 14(1):119
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
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 -
4دورية أكاديمية
المؤلفون: Bonham, JR, Carling, RS, Lindner, M, Franzson, L, Zetterstrom, R, Boemer, F, Cerone, R, Eyskens, F, Vilarinho, L, Hougaard, DM, Schielen, PCJI
المصدر: International journal of neonatal screening. 4(1):8
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Rossi, A, Hoogeveen, IJ, Lubout, CMA, de Boer, F, Fokkert-Wilts, MJ, Rodenburg, IL, van Dam, E, Grünert, SC, Martinelli, D, Scarpa, M, Dekker, H, te Boekhorst, ST, van Spronsen, FJ, Derks, TGJ, de Baere, L, Bellettato, C, Bosch, AM, Sallago, JB, Botto, LD, Brunner-Krainz, M, Carøe, C, Casswall, T, Contreras Pulido, EL, Couce, ML, Dessein, AF, Donati, MA, Eyskens, F, Moura De Souza, CF, Fraile, PQ, Fuchs, SA, Gasperini, S, Haas, D, Hernández, EM, Hochuli, M, Hugon, A, Karall, D, Koeberl, D, Labrune, P, Lajic, S, van Lingen, C, Maiorana, A, Mention, K, Moenig, I, Mohnike, K, Montanari, C, Nassogne, MC, Parini, R, Rahman, S, Reyes, M, Schwantje, M, Skouma, A, Strisciuglio, P, Thiel, M, Weinstein, D, Ziagaki, A
المصدر: Journal of Inherited Metabolic Disease , 44 (5) pp. 1124-1135. (2021)
مصطلحات موضوعية: eHealth, emergency treatment, fatty acid oxidation disorders, glycogen storage diseases, hypoglycemia, telemedicine
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10149887/1/J%20of%20Inher%20Metab%20Disea%20-%202021%20-%20Rossi%20-%20A%20generic%20emergency%20protocol%20for%20patients%20with%20inborn%20errors%20of%20metabolism%20causing.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10149887Test/
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6دورية أكاديمية
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
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7دورية أكاديمية
المؤلفون: Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja)
المصدر: Scientific Reports vol. 10 no. 1
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/129092Test; urn:hdl:1765/129092
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8دورية أكاديمية
المؤلفون: Libbrecht, Sasha, Eyskens, F, Declercq, S, Colpaert, C
المصدر: CASE REPORTS IN PATHOLOGY ; ISSN: 2090-6781 ; ISSN: 2090-679X
مصطلحات موضوعية: Medicine and Health Sciences
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8671197Test; http://hdl.handle.net/1854/LU-8671197Test; http://dx.doi.org/10.1155/2020/8181056Test; https://biblio.ugent.be/publication/8671197/file/8671203Test
الإتاحة: https://doi.org/10.1155/2020/8181056Test
https://biblio.ugent.be/publication/8671197Test
http://hdl.handle.net/1854/LU-8671197Test
https://biblio.ugent.be/publication/8671197/file/8671203Test -
9دورية أكاديمية
المؤلفون: Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnytė, Birutė, Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T.
المصدر: Orphanet journal of rare diseases., London : BioMed Central Ltd., 2019, vol. 14, art. no 86, p. [1-11]. ; eISSN 1750-1172
مصطلحات موضوعية: Galactosemia, Galactosemia network, GALT deficiency, Natural history, Registry
وصف الملف: application/pdf
العلاقة: https://epublications.vu.lt/object/elaba:36925658/36925658.pdfTest; https://repository.vu.lt/VU:ELABAPDB36925658&prefLang=en_USTest
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10دورية أكاديمية
المؤلفون: Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I., Sokal, Etienne, ET ALL
المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
المصدر: Molecular Genetics and Metabolism, (2019)
مصطلحات موضوعية: Genetics, Biochemistry, Molecular Biology, Endocrinology, Diabetes and Metabolism
العلاقة: boreal:214505; http://hdl.handle.net/2078.1/214505Test; urn:ISSN:1096-7192