ライフサイエンスコーパス: alpha-galactosidase A

1 ed by deficient activity of lysosomal enzyme alpha-galactosidase A.

2 disease, which is caused by a deficiency in alpha-galactosidase A.

3 vascular tissue secondary to a deficiency in alpha-galactosidase A.

4 n-label extension study of recombinant human alpha-galactosidase A.

5 the GLA gene, which leads to a deficiency in alpha-galactosidase A.

6 percent of patients who received recombinant alpha-galactosidase A.

7 l storage disorder caused by a deficiency of alpha-galactosidase A.

8 abolism resulting from deficient activity of alpha-galactosidase A.

9 sidase A gene knockout (Gla KO) mice have no alpha-galactosidase A activity and progressively accumul

10 , a genetic disorder caused by deficiency of alpha-galactosidase A activity, is associated with CV dy

11 phenotype observed in patients with residual alpha-galactosidase A activity.

12 ation in the skin due to deficient lysosomal alpha-galactosidase A activity.

13 urrently, no method is available to identify alpha-galactosidase A (agalA) mutations determining clin

14 sive disorder in which affected persons lack alpha-galactosidase A (alpha -GalA), which leads to exce

15 Fabry disease results from deficient alpha-galactosidase A (alpha-Gal A) activity and the pat

16 -linked lysosomal storage disorder caused by alpha-galactosidase A (alpha-GAL A) deficiency.

17 could lower globotriaosylceramide levels in alpha-galactosidase A (alpha-gal A) knockout mice, a mod

18 ith Fabry disease, an X-linked deficiency of alpha-galactosidase A (alpha-Gal A).

19 bry disease is an X-linked inherited loss of alpha-galactosidase A (alpha-Gal A).

20 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

21 sulting from deficient activity of lysosomal alpha-galactosidase A (alpha-Gal A).

22 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

23 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

24 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

25 metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A).

26 c disorder that is caused by a deficiency of alpha-galactosidase A (alpha-Gal A).

27 A deficiency in the lysosomal hydrolase alpha-galactosidase A (alpha-gal A; EC ) leads to impair

28 om mutations in the gene encoding the enzyme alpha-galactosidase A (alpha-gal A; EC ).

29 ed metabolic disorder due to a deficiency of alpha-galactosidase A (alpha-gal A; EC 3.2.1.22).

30 Plasma alpha-galactosidase A (alpha-Gal) was measured in 79 men

31 antigen only accumulates upon inhibition of alpha-galactosidase A (alpha-Gal-A) in lysosomes.

32 Clinical assessments, alpha-galactosidase A (alpha-GalA) activities, glycosphi

33 hat encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA), cause Fabry disease,

34 acement therapy for Fabry disease (deficient alpha-galactosidase A [alpha-Gal A] activity) were perfo

35 y disease is caused by deficient activity of alpha-galactosidase A and subsequent accumulation of gly

36 rage disease caused by deficient activity of alpha-galactosidase A and the resultant systemic accumul

37 zymes cathepsin L, cathepsin A, cathepsin D, alpha-galactosidase A, arylsulfatase A, and alpha-iduron

38 ormal individuals and patients and mice with alpha-galactosidase A deficiency (human Fabry disease).

39 Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked ly

40 Fabry disease (alpha-galactosidase A deficiency) is an X-linked recessi

41 Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progr

42 In 5- to 6-month-old mice with alpha-galactosidase A deficiency, the average GL-3 conce

43 lation in the heart resulting from lysosomal alpha-galactosidase A deficiency.

44 verstimulation and deletion of iNKT cells in alpha-galactosidase A-deficient (alphaGalA(-/-)) mice (h

45 unity, Darmoise et al. report that lysosomal alpha-galactosidase A destroys self-antigens recognized

46 , globoside, the disialoganglioside, GD3, or alpha-galactosidase A-digested fraction 3 had no effect.

47 omal storage disorder caused by a deficit in alpha-galactosidase A enzyme activity leading to glycosp

48 Leukocyte alpha-galactosidase A enzyme activity was mildly reduced

49 sorder caused by the absence or reduction of alpha-galactosidase A enzyme activity.

50 increase in the activity of the therapeutic alpha-galactosidase A enzyme after intramuscular adminis

51 em storage disorder due to the deficiency of alpha-galactosidase A (GALA).

52 alpha-Galactosidase A gene knockout (Gla KO) mice have n

53 istics of the N215S (c.644A>G [p.Asn215Ser]) alpha-galactosidase A gene variant.

54 We studied whether cardio-specific alpha-galactosidase A gene variants are misinterpreted a

55 th X-linked Fabry disease (FD) caused by GLA(alpha-galactosidase A gene) mutations encoding p.D322E (

56 alpha-Galactosidase A genotype N215S does not lead to th

57 osomal storage disorder due to deficiency of alpha-galactosidase A (GLA) activity that results in the

58 Alpha-galactosidase A (Gla) deficiency leads to widespre

59 tations in sarcomere protein, PRKAG2, LAMP2, alpha-galactosidase A (GLA), and several mitochondrial g

60 dy, 20 of the 29 patients in the recombinant alpha-galactosidase A group (69 percent) had no microvas

61 Patients in the recombinant alpha-galactosidase A group also had decreased microvasc

62 ercent of patients in the former recombinant alpha-galactosidase A group who had biopsies had clearan

63 ), which were more common in the recombinant alpha-galactosidase A group.

64 the safety and effectiveness of recombinant alpha-galactosidase A in a multicenter, randomized, plac

65 hereafter, all patients received recombinant alpha-galactosidase A in an open-label extension study.

66 controlled trial of intravenous infusions of alpha-galactosidase A in patients with Fabry disease dem

67 he finding of a marked decreased activity of alpha-galactosidase A in white blood cells or cultured s

68 to below starting levels, consistent with an alpha-galactosidase A-independent salvage pathway for gl

69 ide (Gb3Cer) in the kidneys of wild-type and alpha-galactosidase A-knockout (Fabry) mice was possible

70 lity and glycolipid accumulation, we studied alpha-galactosidase A-knockout mice or primary cultures

71 Recent studies in the alpha-galactosidase A-knockout mouse suggested that a de

72 ity, associated with eNOS uncoupling, in the alpha-galactosidase A-knockout mouse.

73 t long-term treatment with recombinant human alpha-galactosidase A may halt the progression of vascul

74 Specific alpha-galactosidase A mutations were identified in 17 pa

75 n label extension study of recombinant human alpha-galactosidase A (r-halphaGalA), administered i.v.

76 Recombinant alpha-galactosidase A replacement therapy cleared microv

77 cal trials have shown that recombinant human alpha-galactosidase A replacement therapy--the only dise

78 mal storage disorder caused by deficiency of alpha-galactosidase A, resulting in glycosphingolipid ac

79 lticenter phase 3 trial of recombinant human alpha -galactosidase A (rh-alpha GalA) replacement in pa

80 sease is an X-linked lysosomal deficiency of alpha-galactosidase A that results in cellular accumulat

81 ted on a recombinant lysosomal enzyme, human alpha-galactosidase A, that contains mannose 6-phosphate

82 a double-blind, placebo-controlled trial of alpha-galactosidase A therapy, the resting regional cere

83 Five months of recombinant human alpha-galactosidase A treatment in the phase 3 trial res

84 Extracellular alpha-galactosidase A was purified from the culture filt

85 A lysosomal enzyme, alpha-galactosidase A, was responsible for the processin

86 isorder caused by a deficiency of the enzyme alpha-galactosidase A, which results in the progressive