ライフサイエンスコーパス: galactosemia

1 a frequent long-term complication of classic galactosemia.

2 n enzyme (hGALE) is associated with type III galactosemia.

3 ign of small molecule therapies for type III galactosemia.

4 sociated with a very severe form of type III galactosemia.

5 s may facilitate management of patients with galactosemia.

6 been demonstrated in diabetes and classical galactosemia.

7 in a variant form of the metabolic disorder, galactosemia.

8 result in the disorder epimerase-deficiency galactosemia.

9 erapy for patients with epimerase-deficiency galactosemia.

10 hose mutations known to give rise to Type II galactosemia.

11 in the diseased state referred to as Type II galactosemia.

12 ences of mutations in human GalK which cause galactosemia.

13 ophysiologic questions raised by humans with galactosemia.

14 to the diseased state referred to as Type II galactosemia.

15 ism are characteristic of the disease called galactosemia.

16 ldose reductase inhibitors from the onset of galactosemia.

17 GalT is deficient in galactosemia.

18 subnormal DeltaPO(2) in diabetes but not in galactosemia.

19 normal (P < 0.05) at 3 months of diabetes or galactosemia.

20 s in the potentially lethal disorder classic galactosemia.

21 disorder referred to as epimerase-deficiency galactosemia.

22 results in the potentially lethal disorder, galactosemia.

23 ons of retinopathy in diabetes as well as in galactosemia.

24 model of diabetic retinopathy, experimental galactosemia.

25 was not affected by diabetes or experimental galactosemia.

26 enzyme and its role in epimerase-deficiency galactosemia.

27 For experimental galactosemia, a group of normal rats were fed a 30% gala

28 Type III galactosemia, an inherited metabolic disease, is associa

29 h short duration of experimental diabetes or galactosemia and absent or minimal morphological changes

30 ications for furthering our understanding of galactosemia and GALT holoenzyme structure-function rela

31 Brain edema may occur in infants with galactosemia and has been associated with accumulation o

32 in urine is an important clinical symptom of galactosemia and other metabolic disorders.

33 ontaining 30% galactose induces experimental galactosemia and results in the formation of diabetes-li

34 p 5' deletion as a causal mutation in Duarte galactosemia and suggest that direct tests for this dele

35 ither not operative or are less important in galactosemia and that may not relate to the accumulation

36 nsition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases G

37 20 microns, were significantly increased by galactosemia and were attenuated in the galactose-fed, A

38 alactosylated) hemoglobin were elevated with galactosemia and were unaffected by ARI treatment.

39 n of ATPases in diabetes and in experimental galactosemia, and administration of LY333531 to diabetic

40 in diabetes, but was normal in experimental galactosemia, and antioxidants prevented diabetes-induce

41 ecame subnormal in diabetes and experimental galactosemia, and LY333531 had no effect on PKC activity

42 elevant targets in epimerase and transferase galactosemias, and identify UGP as promising new potenti

43 caspases were also measured in experimental galactosemia, another model that develops a diabetic-lik

44 and differences between mice and humans with galactosemia are explored from metabolite, enzyme, and p

45 he more severe cases of epimerase deficiency galactosemia arises from an amino acid substitution at p

46 results in the inherited metabolic disorder galactosemia, because many if not most patients studied

47 After 3.5 months of galactosemia, before the appearance of extensive retinal

48 fast and simultaneous detection of the three galactosemia biomarkers, which implies the fast diagnosi

49 ses activation differed between diabetes and galactosemia, but cas-1 activity became elevated soon af

50 To determine whether the elimination of galactosemia can also reduce the progression of retinal

51 the point variant Q188R accounts for 60% of galactosemia cases.

52 homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoe

53 In classical galactosemia, d-galactose contributes to the formation o

54 Patients with Duarte galactosemia demonstrate reduced GALT activity and carry

55 urological outcomes in all three interacting galactosemia disease models, suggest that Futsch homolog

56 The multiple galactosemia disease states manifest long-term neurologi

57 = +0.70 V in 3 mM NaOH, pH 11.5) conditions, galactosemia diseases were unequivocally identified, dif

58 ctose (UDP-Gal) confirms type I, II, and III galactosemia diseases.

59 After 15 to 18 months of galactosemia, during the period when lesions are present

60 Drosophila galactosemia I (dGALT) and II (dGALK) disease models gen

61 Galactosemia I results from loss of galactose-1-phosphat

62 on range and LOD are appropriate to diagnose galactosemia, i.e., concentrations >1.1mM in infants.

63 Galactosemia II results from loss of galactokinase (GALK

64 Galactosemia III results from the loss of UDP-galactose

65 f point mutations known to result in Type II galactosemia in humans.

66 chemical detectors for the fast diagnosis of galactosemia in precious newborn urine samples.

67 ALT) and is the most common mutation causing galactosemia in the white population.

68 Hyperglycemia (diabetes or galactosemia) increased H4K20me3, acetyl H3K9, and NF-ka

69 Duarte galactosemia is a mild to asymptomatic condition that re

70 Classic galactosemia is a potentially lethal disease caused by t

71 Galactosemia is a rare disease that is diagnosed through

72 Galactosemia is an inherited disorder characterized by a

73 ism continues to progress after experimental galactosemia is terminated in rats: Particularly, antiox

74 e predominant cause of the metabolic disease galactosemia is the mutation of the corresponding Gln (G

75 hese findings indicate that (a) diabetes and galactosemia lead to accelerated death in situ of both r

76 selectivity and sensitivity of CuNWs, toward galactosemia metabolites detection in connection with MC

77 omising new potential therapeutic target for galactosemia neuropathology.

78 Diabetes or experimental galactosemia of 2 months' duration resulted in > 50% ele

79 cally distinct forms of epimerase-deficiency galactosemia-one benign, the other severe.

80 the biochemical basis of pathophysiology in galactosemia remains unknown.

81 Epimerase-deficiency galactosemia results from impairment of the human enzyme

82 Although classical galactosemia results from impairment of the second enzym

83 Epimerase-deficiency galactosemia results from the impairment of UDP-galactos

84 After 6 to 8 months of diabetes or galactosemia, retinal trypsin digests were prepared, and

85 Because of the low prevalence of galactosemia, sample availability is very scarce and scr

86 vealed new biomarkers for early detection of galactosemia, such as N-galactated amino acids, that are

87 ) results in the potentially lethal disorder galactosemia; the biochemical basis of pathophysiology i

88 ransferase, a dimeric enzyme associated with galactosemia, to investigate the impact of naturally occ

89 ers, which implies the fast diagnosis of any galactosemia type in just one single analysis.

90 of antioxidants in diabetes and experimental galactosemia were not caused by the amelioration of hype

91 may be present only in newborn infants with galactosemia who exhibit massive urinary galactitol excr

92 onset (PRV), intervention after 6 months of galactosemia with either galactose withdrawal (GWD) or a