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Journal Abstract Search

165 related items for PubMed ID: 11369620

  • 1. 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
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  • 2. Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
    Zanella A, Bianchi P, Fermo E, Valentini G.
    Br J Haematol; 2006 Apr 01; 133(2):113-23. PubMed ID: 16611302
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 6. Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.
    Manco L, Relvas L, Silva Pinto C, Pereira J, Almeida AB, Ribeiro ML.
    Haematologica; 2006 Feb 01; 91(2):266-7. PubMed ID: 16461318
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  • 7. 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]

  • 8. 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
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  • 9. Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.
    Chiarelli LR, Fermo E, Zanella A, Valentini G.
    Hematology; 2006 Feb 01; 11(1):67-72. PubMed ID: 16522554
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  • 10. 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 Feb 01; 40(3):295-301. PubMed ID: 18499901
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  • 12. 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
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  • 14. Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.
    Chiarelli LR, Bianchi P, Fermo E, Galizzi A, Iadarola P, Mattevi A, Zanella A, Valentini G.
    Blood; 2005 Apr 15; 105(8):3340-5. PubMed ID: 15604219
    [Abstract] [Full Text] [Related]

  • 15. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.
    Kanno H, Takizawa T, Miwa S, Fujii H.
    Br J Haematol; 2004 Jul 15; 126(2):265-71. PubMed ID: 15238149
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  • 19. Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling.
    Kirschner M, Heinen IR, Koschmieder S, Manco L, Bento C, Eggermann T, Kurth I, Jost E, Brümmendorf TH, Fuchs R.
    Clin Case Rep; 2022 Mar 15; 10(3):e05501. PubMed ID: 35280089
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  • 20. 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 Mar 15; 82(2):69-74. PubMed ID: 2552730
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