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1دورية 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
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2دورية 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 -
3دورية أكاديمية
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
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 -
4دورية أكاديمية
المؤلفون: Bandsma, R. H. J., Grefhorst, A., van Dijk, T. H., van der Sluijs, F. H., Hammer, A., Reijngoud, D.-J., Kuipers, F.
المصدر: Diabetologia ; volume 47, issue 11, page 2022-2031 ; ISSN 0012-186X 1432-0428
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine
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5دورية أكاديمية
المؤلفون: JANSEEN, M., DUKMANS, B. A. C., VAN DER SLUIJS, F. A., HAVENGA, K., VANDENBROUCKE, J. P., LAMERS, C. B. H. W., ZWINDERMAN, A. H., CATS, A.
مصطلحات موضوعية: REPLY
وصف الملف: text/html
العلاقة: http://rheumatology.oxfordjournals.org/cgi/content/short/32/5/438Test; http://dx.doi.org/10.1093/rheumatology/32.5.438Test
الإتاحة: https://doi.org/10.1093/rheumatology/32.5.438Test
http://rheumatology.oxfordjournals.org/cgi/content/short/32/5/438Test -
6دورية أكاديمية
المؤلفون: Kolman, S A M, van Sijl, A M, van der Sluijs, F A, van de Ree, M A
المصدر: Journal of Human Hypertension ; volume 31, issue 2, page 121-125 ; ISSN 0950-9240 1476-5527
مصطلحات موضوعية: Internal Medicine
الإتاحة: https://doi.org/10.1038/jhh.2016.49Test
https://www.nature.com/articles/jhh201649.pdfTest
https://www.nature.com/articles/jhh201649Test -
7مؤتمر
العلاقة: Journal of Inherited Metabolic Disease vol:28 pages:197-197; SSIEM 42st Annual Symposium location:Paris, France date:September 6-9, 2005; https://lirias.kuleuven.be/handle/123456789/251338Test
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8دورية أكاديمية
المؤلفون: Plosch, T, Bloks, VW, Terasawa, Y, Berdy, S, Siegler, K, van der Sluijs, F, Kema, IP, Groen, AK, Shan, B, Kuipers, F, Schwartz, M
المصدر: Plosch , T , Bloks , VW , Terasawa , Y , Berdy , S , Siegler , K , van der Sluijs , F , Kema , IP , Groen , AK , Shan , B , Kuipers , F & Schwartz , M 2004 , ' Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor ' , Gastroenterology , vol. 126 , no. 3 , pp. 290-300 . https://doi.org/10.1053/j.gastro.2003.10.074Test
مصطلحات موضوعية: BILIARY CHOLESTEROL SECRETION, DIETARY-CHOLESTEROL, PLANT STEROLS, BILE-ACIDS, ABSORPTION, EXCRETION, PLASMA, GENE, PHYTOSTEROLEMIA, STIMULATION
الإتاحة: https://doi.org/10.1053/j.gastro.2003.10.074Test
https://hdl.handle.net/11370/68b56616-c1e9-480e-80b7-aa9b9c722b68Test
https://research.rug.nl/en/publications/68b56616-c1e9-480e-80b7-aa9b9c722b68Test -
9
المؤلفون: Plosch, T., Bloks, V. W., Terasawa, Y., Berdy, S., Siegler, K., van der Sluijs, F., Kema, I. P., Groen, A. K., Shan, B., Kuipers, F., Schwartz, M.
المساهمون: Experimental Vascular Medicine
المصدر: Gastroenterology, 126(3). W.B. Saunders Ltd
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::2b9b5472f05d813d978d25e75686de09Test
https://pure.amc.nl/en/publications/sitosterolemia-in-abctransporter-g5deficient-mice-is-aggravated-on-activation-of-the-liverx-receptor-retraction-of-vol-126-pg-290-2004Test(955b747f-9a08-4043-9028-b8260b65029d).html -
10دورية
المؤلفون: Kolman, S A M, van Sijl, A M, van der Sluijs, F A, van de Ree, M A
المصدر: Journal of Human Hypertension; February 2017, Vol. 31 Issue: 2 p121-125, 5p
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