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8. 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]
9. 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]
13. 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]
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]
17. 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 [Abstract] [Full Text] [Related]
18. [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]
19. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. Miwa S, Fujii H. Am J Hematol; 1996 Feb 01; 51(2):122-32. PubMed ID: 8579052 [Abstract] [Full Text] [Related]