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Items: 33

1.

Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients.

van der Pluijm M, Sutterland AL, van Kuilenburg ABP, Zoetekouw L, de Haan L, Booij J, van de Giessen E.

Ther Adv Psychopharmacol. 2019 Sep 6;9:2045125319872341. doi: 10.1177/2045125319872341. eCollection 2019.

2.

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM.

Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10.

PMID:
29691939
3.

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, van Kuilenburg ABP.

Mol Genet Metab. 2017 Dec;122(4):216-222. doi: 10.1016/j.ymgme.2017.10.003. Epub 2017 Oct 12.

PMID:
29054612
4.

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

Henricks LM, Siemerink EJM, Rosing H, Meijer J, Goorden SMI, Polstra AM, Zoetekouw L, Cats A, Schellens JHM, van Kuilenburg ABP.

Int J Cancer. 2018 Jan 15;142(2):424-430. doi: 10.1002/ijc.31065. Epub 2017 Sep 30.

5.

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

van Kuilenburg AB, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RL, Dezentjé V, van Huis-Tanja LH, van Kampen RJ, Hertz JM, Hennekam RC.

Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):721-730. doi: 10.1016/j.bbadis.2016.12.010. Epub 2016 Dec 24.

6.

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Kuilenburg ABPV, Meijer J, Tanck MWT, Dobritzsch D, Zoetekouw L, Dekkers LL, Roelofsen J, Meinsma R, Wymenga M, Kulik W, Büchel B, Hennekam RCM, Largiadèr CR.

Biochim Biophys Acta. 2016 Apr;1862(4):754-762. doi: 10.1016/j.bbadis.2016.01.009. Epub 2016 Jan 12.

7.

Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.

Brodszki N, Svensson M, van Kuilenburg AB, Meijer J, Zoetekouw L, Truedsson L, Toporski J.

JIMD Rep. 2015;24:83-9. doi: 10.1007/8904_2015_444. Epub 2015 May 13.

8.

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C.

JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1.

9.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB.

J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. Erratum in: J Inherit Metab Dis. 2014 Nov;37(6):1023.

10.

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Kingma SD, Langereis EJ, de Klerk CM, Zoetekouw L, Wagemans T, IJlst L, Wanders RJ, Wijburg FA, van Vlies N.

Orphanet J Rare Dis. 2013 Jul 9;8:99. doi: 10.1186/1750-1172-8-99.

11.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC.

Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14.

12.

Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227.

PMID:
20544545
13.

Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography.

van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):466-70. doi: 10.1080/15257771003741455.

PMID:
20544539
14.

Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.

van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):461-5. doi: 10.1080/15257771003741406.

PMID:
20544538
15.

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC.

Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.

16.

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME.

Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19.

PMID:
19296131
17.

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

Mazur A, Figurski S, Płoskoń A, Meijer J, Zoetekouw L, Watróbska S, Sykut-Cegielska J, Gradowska W, van Kuilenburg AB.

Acta Biochim Pol. 2008;55(4):787-90. Epub 2008 Dec 16.

18.

Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy.

van Kuilenburg AB, Klumpen HJ, Westermann AM, Zoetekouw L, Bakker PJ, Guchelaar HJ, Richel DJ.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):726-32. doi: 10.1080/15257770802145454.

PMID:
18600532
19.

Paradoxical elevated thiopurine S-methyltransferase activity after pancytopenia during azathioprine therapy: potential influence of red blood cell age.

de Boer NK, van Bodegraven AA, de Graaf P, van der Hulst RW, Zoetekouw L, van Kuilenburg AB.

Ther Drug Monit. 2008 Jun;30(3):390-3. doi: 10.1097/FTD.0b013e31816c20b3.

PMID:
18520612
20.

Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.

Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB.

Mol Genet Metab. 2008 Feb;93(2):190-4. Epub 2007 Oct 26.

PMID:
17964839
21.

Arts syndrome is caused by loss-of-function mutations in PRPS1.

de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.

Am J Hum Genet. 2007 Sep;81(3):507-18. Epub 2007 Aug 3.

22.

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM.

Mol Genet Metab. 2007 Jun;91(2):157-64. Epub 2007 Mar 26.

PMID:
17383919
23.

HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity.

van Kuilenburg AB, van Lenthe H, Zoetekouw L, Kulik W.

Clin Chem. 2007 Mar;53(3):528-30. Epub 2007 Feb 1.

24.

Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin.

van Kuilenburg AB, Klumpen HJ, Westermann AM, Zoetekouw L, Van Lenthe H, Bakker PJ, Richel DJ, Guchelaar HJ.

Eur J Cancer. 2007 Jan;43(2):459-65. Epub 2006 Nov 13.

PMID:
17097873
25.
26.

Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography.

van Kuilenburg AB, Zoetekouw L.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jun 25;820(2):271-275. Erratum in: J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 25;821(2):245.

PMID:
15893964
27.

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH.

Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22.

PMID:
15385443
28.

Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.

van Kuilenburg AB, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, Tamaki N, van Gennip AH.

Clin Cancer Res. 2003 Oct 1;9(12):4363-7.

29.

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.

Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH.

Pharmacogenetics. 2002 Oct;12(7):555-8.

PMID:
12360106
30.
31.

Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity.

van Kuilenburg AB, Haasjes J, Van Lenthe H, Zoetekouw L, Waterham HR, Vreken P, van Gennip AH.

Adv Exp Med Biol. 2000;486:251-5. No abstract available.

PMID:
11783494
32.

Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.

van Kuilenburg AB, Muller EW, Haasjes J, Meinsma R, Zoetekouw L, Waterham HR, Baas F, Richel DJ, van Gennip AH.

Clin Cancer Res. 2001 May;7(5):1149-53.

33.

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.

van Kuilenburg AB, Haasjes J, Richel DJ, Zoetekouw L, Van Lenthe H, De Abreu RA, Maring JG, Vreken P, van Gennip AH.

Clin Cancer Res. 2000 Dec;6(12):4705-12.

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