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5. Pyridoxine-responsive primary acquired sideroblastic anaemia. In vitro and in vivo effects of vitamin B6 on decreased 5-aminolaevulinate synthase activity. Meier PJ; Fehr J; Meyer UA Scand J Haematol; 1982 Nov; 29(5):421-4. PubMed ID: 7156891 [TBL] [Abstract][Full Text] [Related]
6. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. Cox TC; Bottomley SS; Wiley JS; Bawden MJ; Matthews CS; May BK N Engl J Med; 1994 Mar; 330(10):675-9. PubMed ID: 8107717 [TBL] [Abstract][Full Text] [Related]
7. delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease. Aoki Y; Muranaka S; Nakabayashi K; Ueda Y J Clin Invest; 1979 Nov; 64(5):1196-203. PubMed ID: 500806 [TBL] [Abstract][Full Text] [Related]
8. 5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. Bottomley SS; Healy HM; Brandenburg MA; May BK Am J Hematol; 1992 Oct; 41(2):76-83. PubMed ID: 1415186 [TBL] [Abstract][Full Text] [Related]
9. A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. Harigae H; Furuyama K; Kudo K; Hayashi N; Yamamoto M; Sassa S; Sasaki T Am J Hematol; 1999 Oct; 62(2):112-4. PubMed ID: 10577279 [TBL] [Abstract][Full Text] [Related]
10. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. Kucerova J; Horvathova M; Mojzikova R; Belohlavkova P; Cermak J; Divoky V Acta Haematol; 2011; 125(4):193-7. PubMed ID: 21252495 [TBL] [Abstract][Full Text] [Related]
11. A study of a female with congenital sideroblastic anemia. Manabe Y; Seto S; Furusho K; Aoki Y Am J Hematol; 1982 Feb; 12(1):63-7. PubMed ID: 7039309 [TBL] [Abstract][Full Text] [Related]
12. Haema synthesis during pyridoxine therapy in two families with different types of hereditary sideroblastic anaemia. Pasanen AV; Salmi M; Tenhunen R; Vuopio P Ann Clin Res; 1982 Apr; 14(2):61-5. PubMed ID: 7149613 [TBL] [Abstract][Full Text] [Related]
13. Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. Aoki Y J Clin Invest; 1980 Jul; 66(1):43-9. PubMed ID: 6249845 [TBL] [Abstract][Full Text] [Related]
15. R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. Furuyama K; Uno R; Urabe A; Hayashi N; Fujita H; Kondo M; Sassa S; Yamamoto M Br J Haematol; 1998 Dec; 103(3):839-41. PubMed ID: 9858242 [TBL] [Abstract][Full Text] [Related]
16. Delta-aminolevulinic acid synthetase activity in normal human bone marrow and in patients with idiopathic sideroblastic anemia. Bottomley SS; Tanaka M; Self J Enzyme; 1973; 16(1):138-45. PubMed ID: 4208577 [No Abstract] [Full Text] [Related]
17. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. Cotter PD; May A; Fitzsimons EJ; Houston T; Woodcock BE; al-Sabah AI; Wong L; Bishop DF J Clin Invest; 1995 Oct; 96(4):2090-6. PubMed ID: 7560104 [TBL] [Abstract][Full Text] [Related]
18. [An infant case of sideroblastic anemia that responded to oral pyridoxine]. Kudo K; Ito M; Horibe K; Iwase K; Kojima S Rinsho Ketsueki; 1999 Aug; 40(8):667-72. PubMed ID: 10496043 [TBL] [Abstract][Full Text] [Related]
19. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Cotter PD; Baumann M; Bishop DF Proc Natl Acad Sci U S A; 1992 May; 89(9):4028-32. PubMed ID: 1570328 [TBL] [Abstract][Full Text] [Related]
20. Regulation of heme metabolism in normal and sideroblastic bone marrow cells in culture. Ibraham NG; Lutton JD; Hoffman R; Levere RD J Lab Clin Med; 1985 May; 105(5):593-600. PubMed ID: 3989352 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]