524 related articles for article (PubMed ID: 7560104)
1. 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]
2. 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]
3. 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]
4. 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]
5. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Cotter PD; May A; Li L; Al-Sabah AI; Fitzsimons EJ; Cazzola M; Bishop DF
Blood; 1999 Mar; 93(5):1757-69. PubMed ID: 10029606
[TBL] [Abstract][Full Text] [Related]
6. A Novel
Lee JS; Gu J; Yoo HJ; Koh Y; Kim HK
Ann Clin Lab Sci; 2017 May; 47(3):319-322. PubMed ID: 28667034
[TBL] [Abstract][Full Text] [Related]
7. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
Cotter PD; Rucknagel DL; Bishop DF
Blood; 1994 Dec; 84(11):3915-24. PubMed ID: 7949148
[TBL] [Abstract][Full Text] [Related]
8. Late-onset X-linked sideroblastic anemia following hemodialysis.
Furuyama K; Harigae H; Kinoshita C; Shimada T; Miyaoka K; Kanda C; Maruyama Y; Shibahara S; Sassa S
Blood; 2003 Jun; 101(11):4623-4. PubMed ID: 12531813
[TBL] [Abstract][Full Text] [Related]
9. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.
May A; Bishop DF
Haematologica; 1998 Jan; 83(1):56-70. PubMed ID: 9542324
[TBL] [Abstract][Full Text] [Related]
10. Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
Jardine PE; Cotter PD; Johnson SA; Fitzsimons EJ; Tyfield L; Lunt PW; Bishop DF
J Med Genet; 1994 Mar; 31(3):213-8. PubMed ID: 7912287
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
Hurford MT; Marshall-Taylor C; Vicki SL; Zhou JZ; Silverman LM; Rezuke WN; Altman A; Tsongalis GJ
Clin Chim Acta; 2002 Jul; 321(1-2):49-53. PubMed ID: 12031592
[TBL] [Abstract][Full Text] [Related]
12. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Bekri S; May A; Cotter PD; Al-Sabah AI; Guo X; Masters GS; Bishop DF
Blood; 2003 Jul; 102(2):698-704. PubMed ID: 12663458
[TBL] [Abstract][Full Text] [Related]
13. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
Cazzola M; May A; Bergamaschi G; Cerani P; Rosti V; Bishop DF
Blood; 2000 Dec; 96(13):4363-5. PubMed ID: 11110715
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
Cox TC; Kozman HM; Raskind WH; May BK; Mulley JC
Hum Mol Genet; 1992 Nov; 1(8):639-41. PubMed ID: 1301172
[TBL] [Abstract][Full Text] [Related]
16. Microcytic anemia in a pregnant woman: beyond iron deficiency.
Rollón N; Fernández-Jiménez MC; Moreno-Carralero MI; Murga-Fernández MJ; Morán-Jiménez MJ
Int J Hematol; 2015 May; 101(5):514-9. PubMed ID: 25547425
[TBL] [Abstract][Full Text] [Related]
17. [Progress of study on sideroblastic anemia and its possible gene therapy--review].
Wang YQ; Zhu P
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2005 Jun; 13(3):524-8. PubMed ID: 15972158
[TBL] [Abstract][Full Text] [Related]
18. Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.
Morimoto Y; Chonabayashi K; Kawabata H; Okubo C; Yamasaki-Morita M; Nishikawa M; Narita M; Inagaki A; Nakanishi K; Nagao M; Takaori-Kondo A; Yoshida Y
Blood Adv; 2022 Feb; 6(4):1100-1114. PubMed ID: 34781359
[TBL] [Abstract][Full Text] [Related]
19. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Bottomley SS; May BK; Cox TC; Cotter PD; Bishop DF
J Bioenerg Biomembr; 1995 Apr; 27(2):161-8. PubMed ID: 7592563
[TBL] [Abstract][Full Text] [Related]
20. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
Cazzola M; Malcovati L
Hematology Am Soc Hematol Educ Program; 2015; 2015():19-25. PubMed ID: 26637696
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
