المؤلفون: Thewissen, R. M.J., Post, M. A., Maas, D. M., Veizaj, R., Wagenaar, I., Alsady, M., Kools, J., Bouman, K., Zweers, H., Meregalli, P. G., van der Kooi, A. J., van Doorn, P. A., Groothuis, J. T., Lefeber, D. J., Voermans, N. C.

المصدر: Thewissen , R M J , Post , M A , Maas , D M , Veizaj , R , Wagenaar , I , Alsady , M , Kools , J , Bouman , K , Zweers , H , Meregalli , P G , van der Kooi , A J , van Doorn , P A , Groothuis , J T , Lefeber , D J & Voermans , N C 2024 , ' Oral ribose supplementation in dystroglycanopathy : A single case study ' , JIMD Reports , vol. 65 , no. 3 , pp. 171-181 . ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/8c1148e1-546d-4e69-9611-bc42516452caTest

الإتاحة: https://doi.org/10.1002/jmd2.12394Test
https://pure.eur.nl/en/publications/8c1148e1-546d-4e69-9611-bc42516452caTest
https://pure.eur.nl/ws/files/149997328/JIMD_Reports_-_2024_-_Thewissen_-_Oral_ribose_supplementation_in_dystroglycanopathy_A_single_case_study.pdfTest
http://www.scopus.com/inward/record.url?scp=85193399257&partnerID=8YFLogxKTest

المؤلفون: Thewissen, R. M. J., Post, M. A., Maas, D. M., Veizaj, R., Wagenaar, I., Alsady, M., Kools, J., Bouman, K., Zweers, H., Meregalli, P. G., van der Kooi, A. J., van Doorn, P. A., Groothuis, J. T., Lefeber, D. J., Voermans, N. C.

المصدر: Journal of Inherited Metabolic Disease Reports; May2024, Vol. 65 Issue 3, p171-181, 11p

المؤلفون: Zweers, H., Noom, E., Visser, W., Jans, I., Willems, L., Verhoeven, M., Theuns, D.

المصدر: Clinical Nutrition ESPEN ; volume 58, page 526 ; ISSN 2405-4577

مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.clnesp.2023.09.300Test
https://api.elsevier.com/content/article/PII:S2405457723015309?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2405457723015309?httpAccept=text/plainTest

المؤلفون: Zweers, H., van Wegberg, A., Wierda, H., Pelle, T., Vassee, E.

المصدر: Clinical Nutrition ESPEN ; volume 54, page 699 ; ISSN 2405-4577

مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.clnesp.2022.09.703Test
https://api.elsevier.com/content/article/PII:S2405457722012037?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2405457722012037?httpAccept=text/plainTest

المؤلفون: Kruizenga, HM, Memelink, Robert, Zweers, H., Hulshof, P.

المصدر: Kruizenga , HM , Memelink , R , Zweers , H & Hulshof , P 2019 , ' Wat is ASSM? ' , Nederlands tijdschrift voor voeding en diëtetiek , vol. 74 , no. 3 . < https://ntvd.media/artikelen/wat-is-assmTest/ >

العلاقة: https://research.vumc.nl/en/publications/d4600228-5a00-4a7d-b28f-212693a7106fTest

الإتاحة: https://research.vumc.nl/en/publications/d4600228-5a00-4a7d-b28f-212693a7106fTest
https://ntvd.media/artikelen/wat-is-assmTest/

المؤلفون: Alfadhel, M., Pinto, A., Akroyd, R., Altinok, Y. Atik, Bernabei, S. M., Bernstein, L., Bruni, G., Caine, G., Cameron, E., Carruthers, R., Cochrane, B., Daly, A., de Boer, F., Delaunay, S., Dianin, A., Dixon, M., Drogari, E., Dubois, S., Evans, S., Gribben, J., Gugelmo, G., Heidenborg, C., Hunjan, I., Kok, I. L., Kumru, B., Liguori, A., Mayr, D., Megdad, E., Meyer, U., Oliveira, R. B., Pal, A., Pozzoli, A., Pretese, R., Rocha, J. C., Rosenbaum-Fabian, S., Serrano-Nieto, J., Sjoqvist, E., Timmer, C., White, L., van den Hurk, T., van Rijn, M., Zweers, H., Ziadlou, M., MacDonald, A.

مصطلحات موضوعية: Dietary restrictions, Fructose 1,6 bisphosphatase deficiency, Fasting tolerance, Uncooked cornstarch

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Orphanet Journal of Rare Diseases; https://hdl.handle.net/11454/30760Test; https://doi.org/10.1186/s13023-018-0760-3Test; 13

الإتاحة: https://doi.org/10.1186/s13023-018-0760-3Test
https://hdl.handle.net/11454/30760Test

المؤلفون: Pinto, A., Alfadhel, M., Akroyd, R., Altinok, Y. Atik, Bernabei, S. M., Bernstein, L., Bruni, G., Caine, G., Cameron, E., Carruthers, R., Cochrane, B., Daly, A., de Boer, F., Delaunay, S., Dianin, A., Dixon, M., Drogari, E., Dubois, S., Evans, S., Gribben, J., Gugelmo, G., Heidenborg, C., Hunjan, I., Kok, I. L., Kumru, B., Liguori, A., Mayr, D., Megdad, E., Meyer, U., Oliveira, R. B., Pal, A., Pozzoli, A., Pretese, R., Rocha, J. C., Rosenbaum-Fabian, S., Serrano-Nieto, J., Sjoqvist, E., Timmer, C., White, L., van den Hurk, T., van Rijn, M., Zweers, H., Ziadlou, M., MacDonald, A.

المساهمون: Ege Üniversitesi

مصطلحات موضوعية: Fructose 1,6 bisphosphatase deficiency, Dietary restrictions, Fasting tolerance, Uncooked cornstarch

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-018-0760-3Test; https://hdl.handle.net/11454/30760Test; 13

الإتاحة: https://doi.org/10.1186/s13023-018-0760-3Test
https://hdl.handle.net/11454/30760Test

المؤلفون: Daly, A., Pinto, A., Evans, S., Almeida, M. F., Assoun, M., Belanger-Quintana, A., Bernabei, S. M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K. Kaalund, Ter Horst, N. M., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G. E., Kok, I. L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J. C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L. H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F. J., White, L., Zweers, H., MacDonald, A.

المصدر: Daly , A , Pinto , A , Evans , S , Almeida , M F , Assoun , M , Belanger-Quintana , A , Bernabei , S M , Bollhalder , S , Cassiman , D , Champion , H , Chan , H , Dalmau , J , de Boer , F , de Laet , C , de Meyer , A , Desloovere , A , Dianin , A , Dixon , M , Dokoupil , K , Dubois , S , Eyskens , F , Faria , A , Fasan , I , Favre , ....

مصطلحات موضوعية: Propionic acidemia, Protein restricted diet, Precursor-free amino acids, Natural protein, ENTEROPATHICA-LIKE SYNDROME, ORGANIC ACIDURIAS, MANAGEMENT, METABOLISM, DISORDERS, DEFICIENCY, TERM

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/636c1546-6feb-458a-afd5-ffbd02ae8011Test

الإتاحة: https://doi.org/10.1016/j.ymgmr.2017.09.002Test
https://cris.maastrichtuniversity.nl/en/publications/636c1546-6feb-458a-afd5-ffbd02ae8011Test

المؤلفون: Pinto, A., Daly, A., Evans, S., Almeida, M. F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G. E., Kok, I. L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J. C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L. H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F. J., White, L., Zweers, H., MacDonald, A.

المصدر: Pinto , A , Daly , A , Evans , S , Almeida , M F , Assoun , M , Belanger-Quintana , A , Bernabei , S , Bollhalder , S , Cassiman , D , Champion , H , Chan , H , Dalmau , J , de Boer , F , de Laet , C , de Meyer , A , Desloovere , A , Dianin , A , Dixon , M , Dokoupil , K , Dubois , S , Eyskens , F , Faria , A , Fasan , I , Favre , E ....

مصطلحات موضوعية: Isovaleric acidemia, Protein restricted diet, Leucine, Leucine free L-amino acids, Natural protein, L-CARNITINE, ORGANIC ACIDURIAS, GLYCINE THERAPY, METABOLIC DECOMPENSATION, PHENOTYPIC SPECTRUM, LEUCINE METABOLISM, PROTEIN-SYNTHESIS, GENETIC-DEFECT, MANAGEMENT, MASS

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/a04175c6-476d-48d0-aa91-b30f7b8ecdacTest

الإتاحة: https://doi.org/10.1016/j.ymgmr.2017.02.001Test
https://cris.maastrichtuniversity.nl/en/publications/a04175c6-476d-48d0-aa91-b30f7b8ecdacTest

المؤلفون: Pinto, A., Daly, A., Evans, S., Almeida, M. F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, François, Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G. E., Kok, I. L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J. C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L. H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F. J., White, L., Zweers, H., MacDonald, A.

المصدر: 2214-4269 ; Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000416897000005

الإتاحة: https://doi.org/10.1016/J.YMGMR.2017.02.001Test
https://hdl.handle.net/10067/1477330151162165141Test
https://repository.uantwerpen.be/docman/irua/ba057c/147733.pdfTest