-
1دورية أكاديمية
المؤلفون: van Wegberg, A. M. J., van der Weerd, J. C., Engelke, U. F. H., Coene, K. L. M., Jahja, R., Bakker, S. J. L., Huijbregts, S. C. J., Wevers, R. A., Heiner‐Fokkema, M. R., van Spronsen, F. J.
المساهمون: Nutricia Research Foundation, Netherlands Organization for International Cooperation in Higher Education
المصدر: Journal of Inherited Metabolic Disease ; ISSN 0141-8955 1573-2665
-
2دورية أكاديمية
المؤلفون: Stolwijk, N N, Bosch, A M, Bouwhuis, N, Häberle, Johannes, van Karnebeek, C, van Spronsen, F J, Langeveld, M, Hollak, C E M
المصدر: Stolwijk, N N; Bosch, A M; Bouwhuis, N; Häberle, Johannes; van Karnebeek, C; van Spronsen, F J; Langeveld, M; Hollak, C E M (2023). Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism. Journal of Inherited Metabolic Disease, 46(6):1017-1028.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapy
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/253239/1/ZORA_253239.pdfTest; info:pmid/37650776; urn:issn:0141-8955
الإتاحة: https://doi.org/10.5167/uzh-25323910.1002/jimd.12677Test
https://www.zora.uzh.ch/id/eprint/253239Test/
https://www.zora.uzh.ch/id/eprint/253239/1/ZORA_253239.pdfTest -
3دورية أكاديمية
المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.
المساهمون: Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg
مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1, Genetics(clinical), Genetics, Journal Article
وصف الملف: application/pdf
-
4دورية أكاديمية
المؤلفون: Stolwijk, N. N., Bosch, A. M., Bouwhuis, N., Häberle, J., van Karnebeek, C., van Spronsen, F. J., Langeveld, M., Hollak, C. E.M.
المصدر: Stolwijk , N N , Bosch , A M , Bouwhuis , N , Häberle , J , van Karnebeek , C , van Spronsen , F J , Langeveld , M & Hollak , C E M 2023 , ' Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism ' , Journal of Inherited Metabolic Disease , vol. 46 , no. 6 , pp. 1017-1028 . https://doi.org/10.1002/jimd.12677Test
مصطلحات موضوعية: European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapy
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12677Test
https://hdl.handle.net/11370/d7450522-aecb-4d43-9f5f-a8b07057f4e2Test
https://research.rug.nl/en/publications/d7450522-aecb-4d43-9f5f-a8b07057f4e2Test
https://pure.rug.nl/ws/files/876945607/Food_or_medicine_A_European_regulatory_perspective_onnutritional_therapy_products_to_treat_inborn_errors_ofmetabolism.pdfTest
http://www.scopus.com/inward/record.url?scp=85170712073&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.
المصدر: van Vliet , K , Dijkstra , A M , Bouva , M J , van der Krogt , J , Bijsterveld , K , van der Sluijs , F , de Sain-van der Velden , M G , Koop , K , Rossi , A , Thomas , J A , Patera , C A , Kiewiet , M B G , Waters , P J , Cyr , D , Boelen , A , van Spronsen , F J & Heiner-Fokkema , M R 2023 , ' Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency : ....
مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12669Test
https://hdl.handle.net/11370/006934b2-e040-419e-b7f5-8add98a90d5cTest
https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5cTest
https://pure.rug.nl/ws/files/862911851/J_of_Inher_Metab_Disea_-_2023_-_Vliet_-_Maleic_acid_is_a_biomarker_for_maleylacetoacetate_isomerase_deficiency_.pdfTest
http://www.scopus.com/inward/record.url?scp=85167591588&partnerID=8YFLogxKTest -
6
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
-
7دورية أكاديمية
المؤلفون: van Vliet, D, van der Goot, E, van Ginkel, W G, van Faassen, H J R, de Blaauw, P, Kema, I P, Heiner-Fokkema, M R, van der Zee, E A, van Spronsen, F J
المصدر: van Vliet , D , van der Goot , E , van Ginkel , W G , van Faassen , H J R , de Blaauw , P , Kema , I P , Heiner-Fokkema , M R , van der Zee , E A & van Spronsen , F J 2022 , ' The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations ' , Molecular Genetics and Metabolism , vol. 135 , no. 1 , pp. 27-34 . https://doi.org/10.1016Test/j.ymgme.2021.11.003
مصطلحات موضوعية: Phenylketonuria, Inborn error of metabolism, Large neutral amino acids, Mouse model, Dietary treatment, Monoaminergic neurotransmitters, Brain biochemistry, NEUTRAL AMINO-ACIDS, TYROSINE SUPPLEMENTATION, ADULTS, PKU, RESTRICTION, ISOLEUCINE, VALINE, RECOMMENDATIONS, TRYPTOPHAN, TRANSPORT
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016Test/j.ymgme.2021.11.003
https://hdl.handle.net/11370/bc2f5a62-40a6-43bc-8b7e-76c89d389338Test
https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338Test
https://pure.rug.nl/ws/files/210953284/1_s2.0_S1096719221008210_main.pdfTest -
8مراجعة
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
-
9دورية أكاديمية
المؤلفون: Molema, F., Haijes, H. A., Janssen, M. C., Bosch, A. M., van Spronsen, F. J., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J.M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C.G.J., de Vries, M. C., Fuchs, S., Langendonk, J. G., Rizopoulos, D., van Hasselt, P. M., Williams, M.
المصدر: Molema , F , Haijes , H A , Janssen , M C , Bosch , A M , van Spronsen , F J , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Fuchs , S , Langendonk , J G , Rizopoulos , D , van Hasselt , P M & Williams , M 2021 , ' High protein prescription ....
الإتاحة: https://doi.org/10.1016Test/j.clnu.2020.12.027
https://research.vumc.nl/en/publications/24233ca2-d1e1-406c-89a1-d1c6cb6e1881Test
http://www.scopus.com/inward/record.url?scp=85099367686&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Molema, F, Haijes, H A, Janssen, M C, Bosch, A M, van Spronsen, F J, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Fuchs, S, Langendonk, J G, Rizopoulos, D, van Hasselt, P M, Williams, M
المساهمون: Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Infectieziekten onderzoek3 (Bogaert), Huisartsopleiding Intern, Child Health, Cancer, AIOS Psychiatrie, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Infection & Immunity
مصطلحات موضوعية: Complications, Dietary treatment, Methylmalonic acidemia, Outcome, Propionic acidemia, Protein restriction, Critical Care and Intensive Care Medicine, Nutrition and Dietetics, Journal Article
وصف الملف: application/pdf
