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148 related items for PubMed ID: 16522554

  • 1. 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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  • 4. 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; 41(8):e484-e486. PubMed ID: 30951028
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  • 5. 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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  • 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
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  • 9. 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 Dec 01; 73(5):587-90. PubMed ID: 26489818
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  • 10. 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 01; 47(1):48-54. PubMed ID: 1868914
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  • 11. 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
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  • 20. Detection of pyrimidine 5'-nucleotidase deficiency using 1H- or 31P-nuclear magnetic resonance.
    Kagimoto T, Shirono K, Higaki T, Oda T, Matsuzaki H, Nagata K, Nakaji T, Morino Y, Takatsuki K.
    Experientia; 1986 Jan 15; 42(1):69-72. PubMed ID: 3002842
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