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

الإتاحة: https://doi.org/10.1002/jimd.12732Test

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

العلاقة: https://dspace.library.uu.nl/handle/1874/449680Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/449680Test

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: van Wegberg, AMJ, Evers, RAF, Burgerhof, JGM, van Dam, E, Heiner-Fokkema, M R, Janssen, MCH, de Vries, MC, van Spronsen, F J

المصدر: van Wegberg , AMJ , Evers , RAF , Burgerhof , JGM , van Dam , E , Heiner-Fokkema , M R , Janssen , MCH , de Vries , MC & van Spronsen , F J 2021 , ' Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria ' , Molecular Genetics and Metabolism , vol. 133 , no. 1 , pp. 49-55 . https://doi.org/10.1016/j.ymgme.2021.02.008Test

مصطلحات موضوعية: Adult, Biopterin/adverse effects, Brain/drug effects, Child, Preschool, Dried Blood Spot Testing, Female, Humans, Male, Phenylalanine/blood, Phenylalanine Hydroxylase/antagonists & inhibitors, Phenylketonurias/drug therapy, Tyrosine/blood

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/afe67548-227b-437d-8047-293aed9b2589Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.02.008Test
https://hdl.handle.net/11370/afe67548-227b-437d-8047-293aed9b2589Test
https://research.rug.nl/en/publications/afe67548-227b-437d-8047-293aed9b2589Test
https://pure.rug.nl/ws/files/190915972/1_s2.0_S1096719221000561_main.pdfTest

المؤلفون: van Rijt, Willemijn J., Van Hove, Johan L. K., Vaz, Frédéric M., Havinga, Rick, Allersma, Derk P., Zijp, Tanja R., Bedoyan, Jirair K., Heiner‐Fokkema, M. R., Reijngoud, Dirk‐Jan, Geraghty, Michael T., Wanders, Ronald J. A., Oosterveer, Maaike H., Derks, Terry G. J.

المصدر: Journal of Inherited Metabolic Disease ; volume 44, issue 4, page 926-938 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12365Test

المؤلفون: van den Berg, Tamar A. J., van den Heuvel, Marius C., Wiersema-Buist, Janneke, Adelmeijer, Jelle, Nieuwenhuijs-Moeke, Gertrude J., Lisman, Ton, Bakker, Stephan J. L., van Goor, Harry, Annema-de Jong, J. H., Bakker, S. J. L., Berger, S. P., Blokzijl, J., Bodewes, F. A. J. A., de Boer, M. T., Damman, K., De Borst, M. H., Diepstra, A., Dijkstra, G., Douwes, R. M., Eisenga, M. F., Erasmus, M. E., Gan, C. T., Neto, A. W. Gomes, Grootjans, H., Hak, E., Heiner-Fokkema, M. R., Hepkema, B. G., Klont, F., Knobbe, T. J., Kremer, D., Leuvenink, H. G. D., Lexmond, W. S., de Meijer, V. E., Niesters, H. G. M., van Pelt, L. J., Pol, R. A., Porte, R. J., Ranchor, A. V., Sanders, J. S. F., Schutten, J. C., Siebelink, M. J., Slart, R. H. J. A., Swarte, J. C., Timens, W., Touw, D. J., van den Heuvel, M. C., van Leer-Buter, C., van Londen, M., Verschuuren, E. A. M., Vos, M. J.

المساهمون: Tekke Huizinga Fonds

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-021-97629-1Test
https://www.nature.com/articles/s41598-021-97629-1.pdfTest
https://www.nature.com/articles/s41598-021-97629-1Test

المؤلفون: Kremer, Daan, Post, Adrian, Seidel, Ulrike, Huebbe, Patricia, van der Veen, Yvonne, Groothof, Dion, Gomes-Neto, António W., Knobbe, Tim J., Lüersen, Kai, Eisenga, Michele F., Navis, Gerjan J., Rimbach, Gerald, Bakker, Stephan J. L., Kremer, D., Knobbe, T. J., Annema-de Jong, J. H., Berger, S. P., Blokzijl, J., Bodewes, F. A. J. A., de Boer, M. T., Damman, K., De Borst, M. H., Diepstra, A., Dijkstra, G., Douwes, R. M., Eisenga, M. F., Erasmus, M. E., Gan, C. T., Gomes Neto, A. W., Grootjans, H., Hak, E., Heiner-Fokkema, M. R., Hepkema, B. G., Klont, F., Leuvenink, H. G. D., Lexmond, W. S., de Meijer, V. E., Niesters, H. G. M., van Pelt, L. J., Pol, R. A., Porte, R. J., Ranchor, A. V., Sanders, J. S. F., Schutten, J. C., Siebelink, M. J., Slart, R. H. J. A., Swarte, J. C., Timens, W., Touw, D. J., van den Heuvel, M. C.

المساهمون: Top Institute Food and Nutrition

المصدر: European Journal of Nutrition ; volume 61, issue 2, page 973-984 ; ISSN 1436-6207 1436-6215

مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1007/s00394-021-02702-0Test

المؤلفون: Laeremans, H., Turner, C., Andersson, T., Cocho de Juan, José Ángel, Gerrard, A., Heiner-Fokkema, M. R., Herebian, D., Janzen, N., la Marca, G., Rudebeck, M.

مصطلحات موضوعية: CHUS

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/32395414Test; http://hdl.handle.net/20.500.11940/16524Test; 39153

الإتاحة: https://doi.org/20.500.11940/16524Test
https://doi.org/10.1002/jmd2.12112Test
https://hdl.handle.net/20.500.11940/16524Test
https://www.ncbi.nlm.nih.gov/pubmed/32395414Test

المؤلفون: Kingma, H. A., van der Sluijs, F. H., Heiner-Fokkema, M. R.

المصدر: Kingma , H A , van der Sluijs , F H & Heiner-Fokkema , M R 2018 , ' Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis ' , Annals of Clinical Biochemistry , vol. 55 , no. 6 , pp. 693-701 . https://doi.org/10.1177/0004563218779609Test

مصطلحات موضوعية: Congenital disorders of glycosylation, sialotransferrin, transferrin polymorphisms, neuraminidase, capillary zone electrophoresis, DEFICIENT GLYCOPROTEIN SYNDROME, CONGENITAL DISORDERS, TRANSFERRIN ISOFORMS, SERUM TRANSFERRIN, DIAGNOSIS, ASSAY, CDT

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/ffab007c-92c1-4ae4-b9e9-10b2e8211f61Test

الإتاحة: https://doi.org/10.1177/0004563218779609Test
https://hdl.handle.net/11370/ffab007c-92c1-4ae4-b9e9-10b2e8211f61Test
https://research.rug.nl/en/publications/ffab007c-92c1-4ae4-b9e9-10b2e8211f61Test
https://pure.rug.nl/ws/files/67333358/Fast_screening_of_N_glycosylation_disorders_by_sialotransferrin_profiling_with_capillary_zone_electrophoresis.pdfTest