ライフサイエンスコーパス: sideroblastic

1 As mutations in ALAS2 cause congenital sideroblastic anaemia (CSA) in humans, sau represents th

2 important human diseases, such as congenital sideroblastic anaemias and mitochondriopathies.

3 Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recess

4 ochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphoryla

5 n associated with mitochondrial myopathy and sideroblastic anemia (MLASA), a rare autosomal recessive

6 ic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial en

7 X-linked sideroblastic anemia (XLSA) in four unrelated male proba

8 X-linked sideroblastic anemia (XLSA) is caused by mutations in th

9 e 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesti

10 X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive

11 Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria.

12 e cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying a

13 LSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ata

14 cause of anemia in a zebrafish model and of sideroblastic anemia in a human patient.

15 ical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern pop

16 e and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity.

17 to confirm previously described mutations in sideroblastic anemia or "hot spots" in the cytochrome c

18 aract, and inner retinal dysfunction without sideroblastic anemia or developmental delay.

19 X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare synd

20 nsporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functio

21 cataract, Friedreich's ataxia, and X-linked sideroblastic anemia with ataxia).

22 n members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A).

23 tended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 a

24 e a candidate gene for mouse sla (sex linked sideroblastic anemia), near the X inactivation center ge

25 YTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegene

26 uding in particular Diamond-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis.

27 mitochondrial dysfunctions syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalomyopath

28 own to cause a severe congenital syndrome of sideroblastic anemia, B-cell immunodeficiency, recurrent

29 ltiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever,

30 Friedreich ataxia, glutaredoxin 5-deficient sideroblastic anemia, ISCU myopathy, and ABCB7 siderobla

31 patient with pyridoxine-refractory X-linked sideroblastic anemia, our findings suggest that appropri

32 another of her children, an infant son, had sideroblastic anemia, was diagnosed with PS, and died at

33 eful in treatment of human disorders such as sideroblastic anemia, which SOD2 deficiency most closely

34 athy; only 12 patients (71%) manifested with sideroblastic anemia.

35 pathic exercise intolerance and a macrocytic sideroblastic anemia.

36 erythroid heme biosynthesis, cause X-linked sideroblastic anemia.

37 of human ALAS-E causes the disorder X-linked sideroblastic anemia.

38 ons are known to be responsible for x-linked sideroblastic anemia.

39 c approaches for the treatment of congenital sideroblastic anemia.

40 ound medical implications, as represented by sideroblastic anemia.

41 deroblastic anemia, ISCU myopathy, and ABCB7 sideroblastic anemia/ataxia syndrome, affect specific ti

42 cells, with morphologic similarity to human "sideroblastic" anemia.

43 Congenital sideroblastic anemias (CSAs) are a heterogeneous group o

44 The congenital sideroblastic anemias (CSAs) are a heterogeneous group o

45 The congenital sideroblastic anemias (CSAs) are relatively uncommon dis

46 icated in the pathogenesis of the congenital sideroblastic anemias (CSAs).

47 The sideroblastic anemias display remarkable clinical and he

48 ondrial iron accumulation is the hallmark of sideroblastic anemias, which typically result from defec

49 ngenital dyserythropoiesis and some acquired sideroblastic anemias.

50 in MDS without excess blasts, as well as in sideroblastic categories (RARS and RCMD-RS).

51 tegral part of the differential diagnosis of sideroblastic MDS, even in patients not requiring parent

52 Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1