Albertine Donker

X-linked Sideroblastic Anemia in the Netherlands 221 6 130. 17. Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC bioinformatics. 2010;11:548. 18. Cuijpers MLH, van Spronsen DJ, Muus P, Hamel BCJ, Swinkels DW. Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia. International journal of hematology. 2011;94(1):97-100. 19. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. The New England journal of medicine. 1996;335(24):1799-1805. 20. Ploem JE. Diagnostic test in iron overload . Dissertation 1965, Utrecht, The Netherlands. 21. Bergmann AK, Campagna DR, McLoughlin EM, et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatric blood & cancer. 2010;54(2):273-278. 22. Ducamp S, Kannengiesser C, Touati M, et al. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Human mutation. 2011;32(6):590- 597. 23. Kaneko K, Furuyama K, Fujiwara T, et al. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss- of-function mutation which is associated with congenital sideroblastic anemia. Haematologica. 2014;99(2):252-261. 24. Campagna DR, de Bie CI, Schmitz-Abe K, et al. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA- binding site mutations. American journal of hematology. 2014;89(3):315-319. 25. Tanno T, Porayette P, Sripichai O, et al. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood. 2009;114(1):181-186. 26. Tanno T, Noel P, Miller JL. Growth differentiation factor 15 in erythroid health and disease. Current opinion in hematology. 2010;17(3):184-190. 27. Kautz L, Jung G, Valore EV, Rivella S, Nemeth E, Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nature genetics. 2014;46(7):678-684. 28. Kroot JJ, Tjalsma H, Fleming RE, Swinkels DW. Hepcidin in human iron disorders: diagnostic implications. Clinical chemistry. 2011;57(12):1650-1669. 29. Lee PL, Barton JC, Rao SV, Acton RT, Adler BK, Beutler E. Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. Blood cells, molecules & diseases. 2006;36(2):292-297. 30. Barron R, Grace ND, Sherwood G, Powell LW. Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis r e s pon s i b l e? Ga s t r oen t e r o l og y. 1989;96(4):1204-1206. 31. Harris JW, Danish EH, Brittenham GM, McLaren CE. Pyridoxine responsive hereditary sideroblastic erythropoiesis and iron overload: two microcytic subpopulations in the affected male, one normocytic and one microcytic subpopulation in the obligate female carrier. American journal of hematology. 1993;42(4):400-401. 32. Furuyama K, HarigaeH, Kinoshita C, et al. Late- onset X-linked sideroblastic anemia following hemodialysis. Blood. 2003;101(11):4623-4624. 33. Cotter PD, May A, Fitzsimons EJ, et al. 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. The Journal of clinical investigation. 1995;96(4):2090-2096. 34. Ohba R, Furuyama K, Yoshida K, et al.

RkJQdWJsaXNoZXIy ODAyMDc0