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2. 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; 97(11):3327-32. PubMed ID: 11369620 [TBL] [Abstract][Full Text] [Related]
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4. 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 [TBL] [Abstract][Full Text] [Related]
5. 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 [TBL] [Abstract][Full Text] [Related]
6. 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; 91(9):1244-7. PubMed ID: 16956825 [TBL] [Abstract][Full Text] [Related]
7. 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; 73(5):587-90. PubMed ID: 26489818 [TBL] [Abstract][Full Text] [Related]
15. A new mutant erythrocyte pyrimidine 5'-nucleotidase characterized by fast electrophoretic mobility in a Chinese boy with chronic hemolytic anemia. Li JY; Wan SD; Ma ZM; Zhao YH; Zhou GP Clin Chim Acta; 1991 Aug; 200(1):43-7. PubMed ID: 1934510 [No Abstract] [Full Text] [Related]
16. The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E. Escuredo E; Marinaki AM; Duley JA; Thein SL; Rees DC Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1261-3. PubMed ID: 15571242 [TBL] [Abstract][Full Text] [Related]
17. 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; 88(7):2761-7. PubMed ID: 8839873 [TBL] [Abstract][Full Text] [Related]
18. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. Kanno H; Takizawa T; Miwa S; Fujii H Br J Haematol; 2004 Jul; 126(2):265-71. PubMed ID: 15238149 [TBL] [Abstract][Full Text] [Related]
19. 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 [TBL] [Abstract][Full Text] [Related]
20. [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; 93(10):380-2. PubMed ID: 2558262 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]