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Volumn 37, Issue 1, 2012, Pages 3-6

Purine and pyrimidine metabolism: Still more to learn

Author keywords

[No Author keywords available]

Indexed keywords

INOSINE TRIPHOSPHATE; PURINE; PYRIMIDINE;

EID: 84858251416     PISSN: 15708306     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Short Survey
Times cited : (3)

References (15)
  • 1
    • 77951023040 scopus 로고    scopus 로고
    • Disorders of Purine and Pyrimidine metabolism
    • Fernandes J, Saudubray J-M, van den Berghe G. Walter JH, ed. Heidelberg: Springer Medizin Verlag
    • van den Berghe G, Vincent, M-F, Marie S. Disorders of Purine and Pyrimidine metabolism. In: Fernandes J, Saudubray J-M, van den Berghe G. Walter JH, ed. Inborn Metabolic Diseases. Heidelberg: Springer Medizin Verlag; 2006: 435-447.
    • (2006) Inborn Metabolic Diseases , pp. 435-447
    • Van Den Berghe, G.1    Vincent, M.-F.2    Marie, S.3
  • 3
    • 67349253868 scopus 로고    scopus 로고
    • 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, et al. 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). Hum Genet. 2009; 125(5-6): 581-590.
    • (2009) Hum Genet , vol.125 , Issue.5-6 , pp. 581-590
    • Van Kuilenburg, A.B.1    Meijer, J.2    Mul, A.N.3    Hennekam, R.C.4    Hoovers, J.M.5    De Die-Smulders, C.E.6
  • 6
    • 26244466742 scopus 로고    scopus 로고
    • Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE): Report of 3 cases and review of the literature
    • Blondon H, Polivka M, Joly F, Flourie B, Mikol J, Messing B. Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro- gastro-intestinal encephalomyopathy (MNGIE). Gastroenterol Clin Biol. 2005; 29 (8-9): 773-778. (Pubitemid 41411355)
    • (2005) Gastroenterologie Clinique et Biologique , vol.29 , Issue.8-9 , pp. 773-778
    • Blondon, H.1    Polivka, M.2    Joly, F.3    Flourie, B.4    Mikol, J.5    Messing, B.6
  • 7
    • 84897955456 scopus 로고    scopus 로고
    • Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
    • DOI: 10.1007/s10545-010-9049-y
    • Bakker JA, Schlesser P, Smeets HJ, Francois B, Bierau J. Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. J Inherit Metab Dis. 2010; DOI: 10.1007/s10545-010-9049-y.
    • (2010) J Inherit Metab Dis
    • Bakker, J.A.1    Schlesser, P.2    Smeets, H.J.3    Francois, B.4    Bierau, J.5
  • 8
    • 38849130722 scopus 로고    scopus 로고
    • Therapeutic regimens in interstitial lung disease guided by genetic screening: Fact or fiction?
    • DOI 10.1183/09031936.00110207
    • Bakker JA, Bierau J, Drent M. Therapeutic regimens in interstitial lung disease guided by genetic screening: fact or fiction? Eur Respir J. 2007; 30 (5): 821-822. (Pubitemid 351194779)
    • (2007) European Respiratory Journal , vol.30 , Issue.5 , pp. 821-822
    • Bakker, J.A.1    Bierau, J.2    Drent, M.3
  • 12
    • 35348853228 scopus 로고    scopus 로고
    • Pharmacogenetic significance of inosine triphosphatase
    • DOI 10.2217/14622416.8.9.1221
    • Bierau J, Lindhout M, Bakker JA. Pharmacogenetic significance of inosine triphosphatase. Pharmacogenomics. 2007; 8 (9): 1221-1228. (Pubitemid 47578231)
    • (2007) Pharmacogenomics , vol.8 , Issue.9 , pp. 1221-1228
    • Bierau, J.1    Lindhout, M.2    Bakker, J.A.3
  • 13
    • 84855884329 scopus 로고    scopus 로고
    • The effect of ITPA polymorphisms on the enzyme kinetic properties of human erythrocyte inosine triphosphatase toward its substrates ITP and 6-Thio-ITP
    • Bakker JA, Lindhout M, Habets DD, van den Wijngaard A, Paulussen AD, Bierau J. The effect of ITPA polymorphisms on the enzyme kinetic properties of human erythrocyte inosine triphosphatase toward its substrates ITP and 6-Thio-ITP. Nucleosides Nucleotides Nucleic Acids. 2011; 30 (11): 839-849.
    • (2011) Nucleosides Nucleotides Nucleic Acids , vol.30 , Issue.11 , pp. 839-849
    • Bakker, J.A.1    Lindhout, M.2    Habets, D.D.3    Van Den Wijngaard, A.4    Paulussen, A.D.5    Bierau, J.6
  • 14
    • 77956566328 scopus 로고    scopus 로고
    • A role for ITPA variants in the clinical course of pulmonary Langerhans' cell histiocytosis?
    • Bakker JA, Bierau J, Drent M. A role for ITPA variants in the clinical course of pulmonary Langerhans' cell histiocytosis? Eur Respir J. 2010; 36 (3): 684-686.
    • (2010) Eur Respir J , vol.36 , Issue.3 , pp. 684-686
    • Bakker, J.A.1    Bierau, J.2    Drent, M.3
  • 15
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    • ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
    • Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, et al. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature. 2010; 464 (7287): 405-408.
    • (2010) Nature , vol.464 , Issue.7287 , pp. 405-408
    • Fellay, J.1    Thompson, A.J.2    Ge, D.3    Gumbs, C.E.4    Urban, T.J.5    Shianna, K.V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.