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142 related items for PubMed ID: 1868914

  • 1. Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotides in hereditary pyrimidine 5' nucleotidase deficiency.
    David O, Ramenghi U, Camaschella C, Vota MG, Comino L, Pescarmona GP, Nicola P.
    Eur J Haematol; 1991 Jul; 47(1):48-54. PubMed ID: 1868914
    [Abstract] [Full Text] [Related]

  • 2. Pyrimidine 5'-nucleotidase and oxidative damage in red blood cells transfused to beta-thalassemic children.
    David O, Sacchetti L, Vota MG, Comino L, Perugini L, Pescarmona GP.
    Haematologica; 1990 Jul; 75(4):313-8. PubMed ID: 2276676
    [Abstract] [Full Text] [Related]

  • 3. Hemolytic anemia in hereditary pyrimidine 5'-nucleotidase deficiency. II. Effect of pyrimidine nucleotides and their derivatives on glycolytic and pentose phosphate shunt enzyme activity.
    Oda E, Oda S, Tomoda A, Lachant NA, Tanaka KR.
    Clin Chim Acta; 1984 Aug 31; 141(2-3):93-100. PubMed ID: 6091951
    [Abstract] [Full Text] [Related]

  • 4. Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.
    Chiarelli LR, Fermo E, Zanella A, Valentini G.
    Hematology; 2006 Feb 31; 11(1):67-72. PubMed ID: 16522554
    [Abstract] [Full Text] [Related]

  • 5. Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
    Zanella A, Bianchi P, Fermo E, Valentini G.
    Br J Haematol; 2006 Apr 31; 133(2):113-23. PubMed ID: 16611302
    [Abstract] [Full Text] [Related]

  • 6. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
    Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC.
    Blood; 2001 Jun 01; 97(11):3327-32. PubMed ID: 11369620
    [Abstract] [Full Text] [Related]

  • 7. A new simple approach for the determination of pyrimidine 5'-nucleotidase activity in human erythrocytes using an ELISA reader.
    Warang P, Kedar P, Ghosh K, Colah R.
    Int J Lab Hematol; 2012 Jun 01; 34(3):232-6. PubMed ID: 22078096
    [Abstract] [Full Text] [Related]

  • 8. Hemolytic anemia in hereditary pyrimidine 5'-nucleotidase deficiency: nucleotide inhibition of G6PD and the pentose phosphate shunt.
    Tomoda A, Noble NA, Lachant NA, Tanaka KR.
    Blood; 1982 Nov 01; 60(5):1212-8. PubMed ID: 6289944
    [Abstract] [Full Text] [Related]

  • 9. [Genetic detection and enzymatic analyses in α-thalassaemia patients with pyrimidine 5' nucleotidase deficiency].
    Huang JB, Nie N, Shao YQ, Huang ZD, Zhang J, Zhang TL, Shi J, Zheng YZ.
    Zhonghua Xue Ye Xue Za Zhi; 2012 Oct 01; 33(10):852-5. PubMed ID: 23384910
    [Abstract] [Full Text] [Related]

  • 10. Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.
    Altounian L, Perrin J, Fouyssac F, Fenneteau O, Da Costa L, Bahuau M, Leheup B, Jonveaux P, Lesesve JF.
    Ann Biol Clin (Paris); 2015 Oct 01; 73(5):587-90. PubMed ID: 26489818
    [Abstract] [Full Text] [Related]

  • 11. A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.
    Köker SA, Oymak Y, Bianchi P, Fermo E, Karapinar TH, Gözmen S, Ay Y, Vergin RC.
    J Pediatr Hematol Oncol; 2019 Nov 01; 41(8):e484-e486. PubMed ID: 30951028
    [Abstract] [Full Text] [Related]

  • 12. Pyrimidine 5'-nucleotidase acquired deficiency in beta-thalassemia: involvement of enzyme-SH groups in the inactivation process.
    David O, Vota MG, Piga A, Ramenghi U, Bosia A, Pescarmona GP.
    Acta Haematol; 1989 Nov 01; 82(2):69-74. PubMed ID: 2552730
    [Abstract] [Full Text] [Related]

  • 13. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.
    Bianchi P, Fermo E, Alfinito F, Vercellati C, Baserga M, Ferraro F, Guzzo I, Rotoli B, Zanella A.
    Br J Haematol; 2003 Sep 01; 122(5):847-51. PubMed ID: 12930399
    [Abstract] [Full Text] [Related]

  • 14. Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression.
    Santos Ad, Dantas LE, Traina F, Albuquerque DM, Chaim EA, Saad ST.
    Blood Cells Mol Dis; 2014 Dec 01; 53(4):246-52. PubMed ID: 25153905
    [Abstract] [Full Text] [Related]

  • 15. Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency.
    Rees DC, Duley J, Simmonds HA, Wonke B, Thein SL, Clegg JB, Weatherall DJ.
    Blood; 1996 Oct 01; 88(7):2761-7. PubMed ID: 8839873
    [Abstract] [Full Text] [Related]

  • 16. Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.
    Vives i Corrons JL.
    Baillieres Best Pract Res Clin Haematol; 2000 Mar 01; 13(1):103-18. PubMed ID: 10916681
    [Abstract] [Full Text] [Related]

  • 17. Deficiency of pyrimidine 5'-nucleotidase in human leukocytes.
    de Korte D, van Doorn CC, Sijstermans JM, van Gennip AH, Roos D.
    J Inherit Metab Dis; 1989 Mar 01; 12(3):267-72. PubMed ID: 2559246
    [Abstract] [Full Text] [Related]

  • 18. Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.
    Chiarelli LR, Morera SM, Galizzi A, Fermo E, Zanella A, Valentini G.
    Blood Cells Mol Dis; 2008 Mar 01; 40(3):295-301. PubMed ID: 18499901
    [Abstract] [Full Text] [Related]

  • 19. Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder.
    Chiarelli LR, Fermo E, Abrusci P, Bianchi P, Dellacasa CM, Galizzi A, Zanella A, Valentini G.
    Haematologica; 2006 Sep 01; 91(9):1244-7. PubMed ID: 16956825
    [Abstract] [Full Text] [Related]

  • 20. Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.
    Manco L, Ribeiro ML.
    Hum Genet; 2006 Jul 01; 119(6):673-4. PubMed ID: 17128459
    [No Abstract] [Full Text] [Related]

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