-
2
-
-
33748754872
-
Congenital sideroblastic anemias
-
Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep 2006;5:41-9.
-
(2006)
Curr Hematol Rep
, vol.5
, pp. 41-49
-
-
Bottomley, S.S.1
-
3
-
-
34147171967
-
Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts)
-
Steensma DP, Hecksel KA, Porcher JC, Lasho TL. Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). Leuk Res 2007;31:623-8.
-
(2007)
Leuk Res
, vol.31
, pp. 623-628
-
-
Steensma, D.P.1
Hecksel, K.A.2
Porcher, J.C.3
Lasho, T.L.4
-
4
-
-
37049019507
-
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
-
Holme SA, Worwood M, Anstey AV, Elder GH, Badminton MN. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 2007;110: 4108-10.
-
(2007)
Blood
, vol.110
, pp. 4108-4110
-
-
Holme, S.A.1
Worwood, M.2
Anstey, A.V.3
Elder, G.H.4
Badminton, M.N.5
-
6
-
-
0027393011
-
Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria
-
Rademakers LH, Koningsberger JC, Sorber CW, Baart de la Faille H, Van Hattum J, Marx JJ. Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria. Eur J Clin Invest 1993;23:130-8.
-
(1993)
Eur J Clin Invest
, vol.23
, pp. 130-138
-
-
Rademakers, L.H.1
Koningsberger, J.C.2
Sorber, C.W.3
Baart de la Faille, H.4
Van Hattum, J.5
Marx, J.J.6
-
7
-
-
0015581453
-
Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure
-
Scott AJ, Ansford AJ, Webster BH, Stringer HC. Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med 1973;54:251-9.
-
(1973)
Am J Med
, vol.54
, pp. 251-259
-
-
Scott, A.J.1
Ansford, A.J.2
Webster, B.H.3
Stringer, H.C.4
-
9
-
-
0031779289
-
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
-
Rufenacht UB, Gouya L, Schneider-Yin X, Puy H, Schafer BW, Aquaron R, et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 1998;62:1341-52.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1341-1352
-
-
Rufenacht, U.B.1
Gouya, L.2
Schneider-Yin, X.3
Puy, H.4
Schafer, B.W.5
Aquaron, R.6
-
10
-
-
33845536988
-
Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria
-
Di Pierro E, Brancaleoni V, Moriondo V, Besana V, Cappellini MD. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria. Clin Genet 2007;71:84-8.
-
(2007)
Clin Genet
, vol.71
, pp. 84-88
-
-
Di Pierro, E.1
Brancaleoni, V.2
Moriondo, V.3
Besana, V.4
Cappellini, M.D.5
-
11
-
-
0033813299
-
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
-
Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr 2000;159:719-25.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 719-725
-
-
Schneider-Yin, X.1
Gouya, L.2
Meier-Weinand, A.3
Deybach, J.C.4
Minder, E.I.5
-
12
-
-
33947223723
-
Congenital erythropoietic porphyria due to a mutation in GATA1: The first trans-acting mutation causative for a human porphyria
-
Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007;109:2618-21.
-
(2007)
Blood
, vol.109
, pp. 2618-2621
-
-
Phillips, J.D.1
Steensma, D.P.2
Pulsipher, M.A.3
Spangrude, G.J.4
Kushner, J.P.5
|