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

العلاقة: https://research.rug.nl/en/publications/d7450522-aecb-4d43-9f5f-a8b07057f4e2Test

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

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

العلاقة: https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5cTest

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

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/10.1016/j.ymgme.2021.11.003Test

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

العلاقة: https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.11.003Test
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

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 ....

العلاقة: https://research.vumc.nl/en/publications/24233ca2-d1e1-406c-89a1-d1c6cb6e1881Test

الإتاحة: https://doi.org/10.1016/j.clnu.2020.12.027Test
https://research.vumc.nl/en/publications/24233ca2-d1e1-406c-89a1-d1c6cb6e1881Test
http://www.scopus.com/inward/record.url?scp=85099367686&partnerID=8YFLogxKTest

المؤلفون: Strijker, M., Tseng, L. A., van Avezaath, L. K., Oude Luttikhuis, M. A.M., Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D.M., Lunsing, R. J.

المصدر: Strijker , M , Tseng , L A , van Avezaath , L K , Oude Luttikhuis , M A M , Ketelaar , T , Coughlin , C R , Coenen , M A , van Spronsen , F J , Williams , M , de Vries , M C , Westerlaan , H E , Bok , L A , van Karnebeek , C D M & Lunsing , R J 2021 , ' Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study ' , European Journal of Paediatric Neurology ....

الإتاحة: https://doi.org/10.1016/j.ejpn.2021.06.001Test
https://pure.eur.nl/en/publications/ffe92721-b985-4a8e-badd-d87b84bb8881Test
http://www.scopus.com/inward/record.url?scp=85109159105&partnerID=8YFLogxKTest
http://www.ejpn-journal.com/article/S1090379821001239/pdfTest

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 ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.clnu.2020.12.027Test
https://pure.eur.nl/en/publications/947492b6-378f-48a7-a646-a825088b7ecdTest
https://pure.eur.nl/ws/files/53152807/High_protein_prescription_in_methylmalonic_and_propionic_acidemia_patients_and_its_negative_association_with_long_term_outcome.pdfTest
http://www.scopus.com/inward/record.url?scp=85099367686&partnerID=8YFLogxKTest

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 ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/947492b6-378f-48a7-a646-a825088b7ecdTest

الإتاحة: https://doi.org/10.1016/j.clnu.2020.12.027Test
https://pure.eur.nl/en/publications/947492b6-378f-48a7-a646-a825088b7ecdTest
https://pure.eur.nl/ws/files/53152807/High_protein_prescription_in_methylmalonic_and_propionic_acidemia_patients_and_its_negative_association_with_long_term_outcome.pdfTest
http://www.scopus.com/inward/record.url?scp=85099367686&partnerID=8YFLogxKTest

المؤلفون: Strijker, M., Tseng, L. A., van Avezaath, L. K., Oude Luttikhuis, M. A.M., Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D.M., Lunsing, R. J.

المصدر: Strijker , M , Tseng , L A , van Avezaath , L K , Oude Luttikhuis , M A M , Ketelaar , T , Coughlin , C R , Coenen , M A , van Spronsen , F J , Williams , M , de Vries , M C , Westerlaan , H E , Bok , L A , van Karnebeek , C D M & Lunsing , R J 2021 , ' Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study ' , European Journal of Paediatric Neurology ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

العلاقة: https://pure.eur.nl/en/publications/ffe92721-b985-4a8e-badd-d87b84bb8881Test

الإتاحة: https://doi.org/10.1016/j.ejpn.2021.06.001Test
https://pure.eur.nl/en/publications/ffe92721-b985-4a8e-badd-d87b84bb8881Test
http://www.scopus.com/inward/record.url?scp=85109159105&partnerID=8YFLogxKTest
http://www.ejpn-journal.com/article/S1090379821001239/pdfTest

المؤلفون: van Wegberg, A. M. J., MacDonald, A., Abeln, D., Hagedorn, T. S., Lange, E., Trefz, F., van Vliet, D., van Spronsen, F. J.

المصدر: van Wegberg , A M J , MacDonald , A , Abeln , D , Hagedorn , T S , Lange , E , Trefz , F , van Vliet , D & van Spronsen , F J 2021 , ' Patient's thoughts and expectations about centres of expertise for PKU ' , Orphanet journal of rare diseases , vol. 16 , no. 1 , 2 . https://doi.org/10.1186/s13023-020-01647-7Test

مصطلحات موضوعية: Phenylketonuria, Patients view, Centre of expertise, European reference network

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/af628814-e4a3-4909-88f0-3d08f20731f6Test

الإتاحة: https://doi.org/10.1186/s13023-020-01647-7Test
https://hdl.handle.net/11370/af628814-e4a3-4909-88f0-3d08f20731f6Test
https://research.rug.nl/en/publications/af628814-e4a3-4909-88f0-3d08f20731f6Test
https://pure.rug.nl/ws/files/175412392/s13023_020_01647_7.pdfTest

المؤلفون: Strijker, M., Tseng, L. A., van Avezaath, L. K., Luttikhuis, M. A. M. Oude, Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D. M., Lunsing, R. J.

المصدر: Strijker , M , Tseng , L A , van Avezaath , L K , Luttikhuis , M A M O , Ketelaar , T , Coughlin , C R , Coenen , M A , van Spronsen , F J , Williams , M , de Vries , M C , Westerlaan , H E , Bok , L A , van Karnebeek , C D M & Lunsing , R J 2021 , ' Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study ' , European Journal of Paediatric ....

مصطلحات موضوعية: Pyridoxine-dependent epilepsy, Vitamin B6, Neurological outcome, Lysine reduction therapies, Intellectual disability, MRI, LYSINE-RESTRICTED DIET, ARGININE SUPPLEMENTATION, SEIZURES, THERAPY, MUTATIONS, ANTIQUITIN, PHENOTYPE, DIAGNOSIS, LEADS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/b0c964d1-abaa-4bf1-ab37-cd095d9d4a9bTest

الإتاحة: https://doi.org/10.1016/j.ejpn.2021.06.001Test
https://hdl.handle.net/11370/b0c964d1-abaa-4bf1-ab37-cd095d9d4a9bTest
https://research.rug.nl/en/publications/b0c964d1-abaa-4bf1-ab37-cd095d9d4a9bTest
https://pure.rug.nl/ws/files/200382303/1_s2.0_S1090379821001239_main_1_.pdfTest