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pro vyhledávání: '"R.A. de Abreu"'
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Publikováno v:
Biochemical Society Transactions, 35, 331-5
Biochemical Society Transactions, 35, Pt 2, pp. 331-5
Biochemical Society Transactions, 35, Pt 2, pp. 331-5
Contains fulltext : 51542.pdf (Publisher’s version ) (Closed access) Both polyamine metabolism and DNA methylation play an important role in normal and malignant growth. Specific enzyme inhibitors or drugs that interfere with these metabolic pathwa
Autor:
L. B. A. Van De Putte, D. G. M. De Koning, R.A. de Abreu, A. M. T. Boerbooms, A. H. Pennings, J. Stolk
Publikováno v:
Annals of the Rheumatic Diseases, 58, 122-125
Annals of the Rheumatic Diseases, 58, pp. 122-125
Annals of the Rheumatic Diseases, 58, pp. 122-125
OBJECTIVE—To investigate purine metabolism in patients with systemic lupus erythematosus (SLE) for possible abnormalities that might be related to their overall impaired immune function. METHODS—This pilot study included 17 patients with SLE (2 m
Autor:
M Kouwaki, Masaru Nonaka, Yoshiro Wada, Jan J. Rotteveel, Makoto Sasaki, R.A. de Abreu, M Imaeda, Satoshi Sumi, A. B. P. Van Kuilenburg, Peter Vreken, Y Endo, Koichi Matsuda, Satoru Ohba, Naoki Hamajima, Kiyoshi Kidouchi, A. H. van Gennip, H Togari, Nanaya Tamaki
Publikováno v:
American Journal of Human Genetics, 63, 717-726
American journal of human genetics, 63(3), 717-726. Cell Press
American Journal of Human Genetics, 63, pp. 717-726
American journal of human genetics, 63(3), 717-726. Cell Press
American Journal of Human Genetics, 63, pp. 717-726
SummaryDihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable clinical phenotype. This disease might be associated with a risk of 5-fluorouracil toxicity, although no cases have be
Publikováno v:
Journal of inherited metabolic disease, 21(3), 280-284. Springer Netherlands
Autor:
Peter Vreken, A. H. van Gennip, Jan J. Rotteveel, Jan A.J.M. Bakkeren, A. B. P. Van Kuilenburg, R.A. de Abreu, G.H. van Lenthe
Publikováno v:
Journal of inherited metabolic disease, 20, 339-342. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, pp. 339-342
Journal of Inherited Metabolic Disease, 20, 339-342
Journal of inherited metabolic disease, 20(3), 339-342. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, pp. 339-342
Journal of Inherited Metabolic Disease, 20, 339-342
Journal of inherited metabolic disease, 20(3), 339-342. Springer Netherlands
Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the degradation of both dihydrouracil and dihydrothymine to N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid, respec
Autor:
Arend Heerschap, J.G.N. de Jong, N. G. G. M. Abeling, Jan J. Rotteveel, Udo F. H. Engelke, R.A. de Abreu, Ron A. Wevers, A. H. van Gennip
Publikováno v:
Journal of Inherited Metabolic Disease, 20, pp. 345-350
Journal of inherited metabolic disease, 20(3), 345-350. Springer Netherlands
Journal of inherited metabolic disease, 20, 345-350. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, 345-350
Journal of inherited metabolic disease, 20(3), 345-350. Springer Netherlands
Journal of inherited metabolic disease, 20, 345-350. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, 345-350
1H NMR spectroscopy of body fluids has been used in the diagnosis of many inborn errors of metabolism (Lehnert and Hunkler 1986; Iles and Chalmers 1988). To our knowledge there is no systematic study available of body fluids from patients with inborn
Autor:
L. H. J. Lambooy, Jos P.M. Bökkerink, L.P.W.J. van den Heuvel, R.A. de Abreu, P.A.J. Leegwater
Publikováno v:
Leukemia, 11, pp. 971-978
Leukemia, 11, 971-978
Leukemia, 11, 971-978
Aberrant DNA methylation can occur early in neoplastic transformation and may lead to the development of cancer. We describe the alterations of methylation patterns at the DNA sequence level which occurred in the 5' region of the calcitonin gene in l
Autor:
Gerrit Smit, Henk D. Bakker, A. B. P. Van Kuilenburg, Rutger Meinsma, A. H. van Gennip, Peter Vreken, R.A. de Abreu
Publikováno v:
Journal of Inherited Metabolic Disease, 19, 645-654
Journal of Inherited Metabolic Disease, 19, pp. 645-654
Journal of inherited metabolic disease, 19(5), 645-654. Springer Netherlands
Journal of Inherited Metabolic Disease, 19(5), 645-654. SPRINGER
Journal of Inherited Metabolic Disease, 19, pp. 645-654
Journal of inherited metabolic disease, 19(5), 645-654. Springer Netherlands
Journal of Inherited Metabolic Disease, 19(5), 645-654. SPRINGER
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria and associated with a variable clinical phenotype. In order to identify the molecular defect underlying complete DPD deficiency in
Autor:
Jos P.M. Bökkerink, R.A. de Abreu, P.A.J. Leegwater, C.W. Keuzenkamp-Jansen, M.A.H. Lambooy, J. M. F. Trijbels
Publikováno v:
Journal of Chromatography. B, 678, Appl, pp. 15-22
Journal of Chromatography. B, 678, 15-22
Journal of Chromatography. B, 678, 15-22
Thiopurine methyltransferase (TPMT) is an important enzyme in the metabolism of 6-mercaptopurine (6MP), which is used in the treatment of acute lymphoblastic leukemia (ALL). TPMT catalyzes the formation of methylthioinosine monophosphate (MetIMP), wh