Search Results - "van Kuilenburg, A. B. P."

Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency by van Staveren, M C, Jan Guchelaar, H, van Kuilenburg, A B P, Gelderblom, H, Maring, J G

“…5-Fluorouracil (5-FU) is rapidly degraded by dihyropyrimidine dehydrogenase (DPD). Therefore, DPD deficiency can lead to severe toxicity or even death…”
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Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers by Gross, E, Meul, C, Raab, S, Propping, C, Avril, S, Aubele, M, Gkazepis, A, Schuster, T, Grebenchtchikov, N, Schmitt, M, Kiechle, M, Meijer, J, Vijzelaar, R, Meindl, A, van Kuilenburg, A B P

“…Background: Genomic rearrangements at the fragile site FRA1E may disrupt the dihydropyrimidine dehydrogenase gene ( DPYD ) which is involved in 5-fluorouracil…”
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Pharmacokinetics of S-1, an oral formulation of ftorafur, oxonic acid and 5-chloro-2,4-dihydroxypyridine (molar ratio 1:0.4:1) in patients with solid tumors by PETERS, G. J, NOORDHUIS, P, HOLWERDA, U, GIACCONE, K. Smid G, FUMOLEAU, P, VAN GROENINGEN, C. J, VAN KUILENBURG, A. B. P, SCHORNAGEL, J. H, GALL, H, TURNER, S. L, SWART, M. S, VOORN, D, VAN GENNIP, A. H, WANDERS, J

“…S-1 is an oral formulation of ftorafur (FT), oxonic acid and 5-chloro-2,4-dihydroxypyridine (CDHP) at a molar ratio of 1:0.4:1. FT is a 5-fluorouracil (5-FU)…”
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Dihydropyrimidine dehydrogenase deficiency presenting at birth by Al‐Sanna'a, N. A., Van Kuilenburg, A. B. P., Atrak, T. M., Jabbar, M. A. Abdul, Van Gennip, A. H.

“…Summary Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a clinically heterogeneous autosomal recessive disorder of pyrimidine metabolism…”
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Frequent intragenic rearrangements of DPYD in colorectal tumours by van Kuilenburg, A B P, Etienne-Grimaldi, M-C, Mahamat, A, Meijer, J, Laurent-Puig, P, Olschwang, S, Gaub, M-P, Hennekam, R C M, Benchimol, D, Houry, S, Letoublon, C, Gilly, F-N, Pezet, D, Andre, T, Faucheron, J-L, Abderrahim-Ferkoune, A, Vijzelaar, R, Pradere, B, Milano, G

“…Dihydropyrimidine dehydrogenase is a crucial enzyme for the degradation of 5-fluorouracil (5FU). DPYD, which encodes dihydropyrimidine dehydrogenase, is prone…”
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Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency by Enns, G. M., Barkovich, A. J., Kuilenburg, A. B. P., Manning, M., Sanger, T., Witt, D. R., Gennip, A. H.

“…Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of pyrimidine metabolism. Patients may present with a wide range of…”
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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene by MARING, J. G, VAN KUILENBURG, A. B. P, HAASJES, J, PIERSMA, H, GROEN, H. J. M, UGES, D. R. A, VAN GENNIP, A. H, DE VRIES, E. G. E

“…5-fluorouracil pharmacokinetics, dihydropyrimidine dehydrogenase-activity and DNA sequence analysis were compared between a patient with extreme 5-fluorouracil…”
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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression by van der Veen, S.J., Körver, S., Hirsch, A., Hollak, C.E.M., Wijburg, F.A., Brands, M.M., Tøndel, C., van Kuilenburg, A.B.P., Langeveld, M.

“…Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage…”
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Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment by van der Veen, S.J., van Kuilenburg, A.B.P., Hollak, C.E.M., Kaijen, P.H.P., Voorberg, J., Langeveld, M.

“…Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of…”
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Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation by Fiumara, A., Kuilenburg, A. B. P., Caruso, U., Nucifora, C., Marzullo, E., Barone, R., Meli, C., Gennip, A. H.

“…Dihydropyrimidine dehydrogenase (DPD) deficiency has been linked to 5‐fluorouracil toxicity, but patients may present a wide clinical spectrum. We describe a…”
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Activity of Pyrimidine Degradation Enzymes in Normal Tissues by van Kuilenburg, A. B. P., van Lenthe, H., van Gennip, A. H.

“…In this study, we measured the activity of dihydropyrimidine dehydrogenase (DPD), dihydropyrimidinase (DHP) and ß-ureidopropionase (ß-UP), using radiolabeled…”
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Cyclopentenyl cytosine increases gemcitabine radiosensitisation in human pancreatic cancer cells by van Bree, C, Rodermond, H M, Leen, R, Medema, J P, van Kuilenburg, A B P

“…The deoxycytidine analogue 2′,2′-difluoro-2′-deoxycytidine (dFdC, gemcitabine) is a potent radiosensitiser, but has limited efficacy in combination with…”
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Investigation of CTLA-4 and CD28 gene polymorphisms in patients with diabetes mellitus type 2 using PCR-RFLP in a Turkish population by Uzer, E, Dilmec, F, Akkafa, F, Boduroglu, O, van Kuilenburg, A B P

“…The aim of this study is to investigate whether specific polymorphisms in the CTLA-4 and CD28 gene are associated with Type 2 diabetes mellitus (T2DM). Blood…”
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Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients by Verly, I.R.N., Leen, R., Meinsma, J.R., Hooijer, G.K.J., Savci-Heijink, C.D., van Nes, J., Broekmans, M., Wanders, R.J.A., van Kuilenburg, A.B.P., Tytgat, G.A.M.

“…Analysis of urinary catecholamine metabolites is one of the primary modalities to diagnose patients with neuroblastoma. Although catecholamine excretion…”
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Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature by Voorink-Moret, M., Goorden, S.M.I., van Kuilenburg, A.B.P., Wijburg, F.A., Ghauharali-van der Vlugt, J.M.M., Beers-Stet, F.S., Zoetekouw, A., Kulik, W., Hollak, C.E.M., Vaz, F.M.

“…In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of…”
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Prevention of fluoropyrimidine toxicity: do we still have to try our patient's luck? by Danesi, R., Del Re, M., Ciccolini, J., Schellens, J.H.M., Schwab, M., van Schaik, R.H.N., van Kuilenburg, A.B.P.

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3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients by Verly, I.R.N., van Kuilenburg, A.B.P., Abeling, N.G.G.M., Goorden, S.M.I., Fiocco, M., Vaz, F.M., van Noesel, M.M., Zwaan, C.M., Kaspers, G.J.L., Merks, J.H.M., Caron, H.N., Tytgat, G.A.M.

“…Prognosis of neuroblastoma patients is very diverse, indicating the need for more accurate prognostic parameters. The excretion of catecholamine metabolites by…”
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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation by Van Kuilenburg, A. B. P., Vreken, P., Riva, D., Botteon, G., Abeling, N. G. G. M., Bakker, H. D., Van Gennip, A. H.

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Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines by Meinsma, R., van Kuilenburg, A.B.P.

“…Uridine-cytidine kinase (UCK) catalyzes the phosphorylation of uridine, cytidine, and several pyrimidine ribonucleoside analogs. We overexpressed and purified…”
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Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation by Paisiou, A., Rogalidou, M., Pons, R., Ioannidou, E., Dimakou, K., Papadopoulou, A., Vaz, F.M., Vessalas, G., Goorden, S.M.I., Roelofsen, J., Zoetekouw, A., Nieman, M.M., Dimitriou, E., Moraitou, M., Peristeri, I., Michelakakis, H., van Kuilenburg, A.B.P.

“…We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial…”
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