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Journal Abstract Search

125 related items for PubMed ID: 12930399

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  • 4. 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; 53(4):246-52. PubMed ID: 25153905
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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; 91(2):266-7. PubMed ID: 16461318
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  • 7. Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
    Zanella A, Bianchi P, Fermo E, Valentini G.
    Br J Haematol; 2006 Apr; 133(2):113-23. PubMed ID: 16611302
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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; 11(1):67-72. PubMed ID: 16522554
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  • 13. 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
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  • 14. 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; 13(1):103-18. PubMed ID: 10916681
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  • 18. [Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia].
    Pekrun A, Lakomek M, Eng W, Schröter W.
    Dtsch Med Wochenschr; 1993 Sep 10; 118(36):1276-80. PubMed ID: 8375297
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  • 19. [Hemolytic anemia caused by pyrimidine 5'-nucleotidase (P5N) deficiency 15 years later. Apropos of 2 new cases of hereditary deficit and another one of lead poisoning].
    de la Serna FJ, Gilsanz F, Ricard P, Urrutia A.
    Med Clin (Barc); 1989 Oct 07; 93(10):380-2. PubMed ID: 2558262
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