ライフサイエンスコーパス: megaloblastic

1 al disturbances occur in thiamine-responsive megaloblastic anaemia (TRMA), an autosomal recessive dis

2 Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, a

3 rmacologic doses of thiamine ameliorates the megaloblastic anaemia and diabetes mellitus.

4 Thiamine-responsive megaloblastic anaemia syndrome (TRMA; MIM 249270) is an

5 Thiamine-responsive megaloblastic anaemia with diabetes and deafness (TRMA;

6 recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms

7 ecessive disorder with features that include megaloblastic anaemia, mild thrombocytopenia and leucope

8 nocarcinoma) and iron-deficiency rather than megaloblastic anaemia.

9 ins, their morphologically indistinguishable megaloblastic anaemias, and their overlapping neuropsych

10 A mouse model of thiamin-responsive megaloblastic anemia (diabetes mellitus, deafness, megal

11 -vitamin B12 receptor, results in hereditary megaloblastic anemia (MGA1), owing to vitamin B12 malabs

12 lasts from patients with thiamine-responsive megaloblastic anemia (TRMA) syndrome with diabetes and d

13 y of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness.

14 iency disorders, such as thiamine-responsive megaloblastic anemia (TRMA), which is associated with sp

15 Imerslund-Grasbeck syndrome (I-GS, megaloblastic anemia 1) is an autosomal recessive disord

16 of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs.

17 Vitamin B12 deficiency causes megaloblastic anemia and neurologic disorder in humans.

18 r de novo dTMP biosynthesis can lead to both megaloblastic anemia and SCID in MTHFD1 deficiency.

19 TRMA) is characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.

20 inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebra

21 data) for risk of deficiency on the basis of megaloblastic anemia as a hematologic indicator in perso

22 Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) defi

23 paired purine nucleotide metabolism, whereas megaloblastic anemia has been associated with impaired d

24 dies of impaired DNA synthesis and repair in megaloblastic anemia have concerned mainly the decreased

25 Clinical and experimental studies of megaloblastic anemia have demonstrated an impairment of

26 wed not only as a nutrient needed to prevent megaloblastic anemia in pregnancy but also as a vitamin

27 sm, the degree of uracil misincorporation in megaloblastic anemia is sufficient to increase the stead

28 amage, accounting for the pathophysiology of megaloblastic anemia observed in vitamin B12 and folate

29 Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B(12) deficien

30 Thiamin-responsive megaloblastic anemia syndrome (TRMA) is characterized by

31 Pernicious anemia is a common cause of megaloblastic anemia throughout the world and especially

32 isincorporated into the DNA of patients with megaloblastic anemia to levels detectable by nonradioact

33 They suffer from megaloblastic anemia with or without some degree of neur

34 blastic anemia (diabetes mellitus, deafness, megaloblastic anemia) lacking functional Slc19a2 has bee

35 "Cyclin D1-only" mice developed severe megaloblastic anemia, "cyclin D2-only" mice presented ne

36 f folate or vitamin B(12) (cobalamin) causes megaloblastic anemia, a disease characterized by pancyto

37 Mutations in THTR-1 cause thiamin-responsive megaloblastic anemia, a tissue-specific disease associat

38 Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers sy

39 B12 deficiency is the leading cause of megaloblastic anemia, and although more common in the el

40 The proband presented with SCID, megaloblastic anemia, and neurologic abnormalities, but

41 c disease associated with diabetes mellitus, megaloblastic anemia, and sensorineural deafness.

42 ary levels of the vitamin folate can lead to megaloblastic anemia, birth defects, impaired cognitive

43 essive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineur

44 Although rarely resulting in megaloblastic anemia, mild deficiency may be associated

45 However, in patients with thiamin-responsive megaloblastic anemia, plasma thiamin levels are within n

46 and symptoms of vitamin B12 deficiency, e.g. megaloblastic anemia, precise evaluation and treatment i

47 parents had diabetes mellitus, deafness, or megaloblastic anemia, which raised the possibility that

48 linical vitamin B12 deficiency can result in megaloblastic anemia, which results from the inhibition

49 tion as a means to prevent pregnancy-induced megaloblastic anemia.

50 parable with those observed in patients with megaloblastic anemia.

51 en the S-phase accumulation and apoptosis in megaloblastic anemia.

52 thesis of thymidylate in the pathogenesis of megaloblastic anemia.

53 the metabolic disorder, thiamine-responsive megaloblastic anemia.

54 es explanations for the clinical findings in megaloblastic anemia.

55 normal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anem

56 nemia with abnormal erythroid maturation and megaloblastic changes, as well as profound defects in ly

57 ed erythrocytes and the presence of immature megaloblastic erythroblasts.

58 h individuals and the macrocytic anemia with megaloblastic features of the more severe case.

59 The median level of uracil in the megaloblastic group was 0.082 mol% of cytosine (approx.

60 The bone marrow showed frank megaloblastic morphology, and the Schilling test indicat

61 um-free liquid culture into large numbers of megaloblastic nucleated erythroblasts resembling yolk sa

62 ormal levels of methylcytosine in the DNA of megaloblastic subjects.