ライフサイエンスコーパス: Krabbe

1 Krabbe disease is a devastating neurodegenerative diseas

2 Krabbe disease is a devastating pediatric leukodystrophy

3 Krabbe disease or globoid cell leukodystrophy (GLD) is a

4 Krabbe's disease or globoid cell leukodystrophy is a rar

5 oid cell leukodystrophy (GLD), also known as Krabbe disease, is a devastating, degenerative neurologi

6 Differences in RA between Krabbe disease patients and control subjects were signif

7 nzyme beta-galactocerebrosidase (GALC) cause Krabbe disease, a devastating genetic disorder character

8 te-onset GLD and in 1 patient with classical Krabbe disease.

9 novel target to complement in therapies for Krabbe disease.

10 the disease is the classical infantile form (Krabbe disease), later-onset forms also have been descri

11 Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal recessive, degenerative,

12 rlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocereb

13 Globoid cell leukodystrophy (GLD, Krabbe disease) is a lysosomal storage disease (LSD) cau

14 Globoid cell leukodystrophy (GLD, Krabbe disease) is diagnosed by measuring galactosylcera

15 Globoid cell leukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations

16 thogenic mutations on GALC function in human Krabbe variants and a compelling explanation for the sev

17 ic nerve and in samples from brains of human Krabbe patients.

18 ychosine, the neurotoxin that accumulates in Krabbe disease.

19 changes conducive to muscle degeneration in Krabbe disease using the murine (twitcher mouse) and can

20 work indicates that muscular dysfunction in Krabbe disease is compounded by a pathogenic mechanism i

21 itcher, has a nonsense mutation not found in Krabbe patients, although it is similar to the human 30

22 t an important role for neuroinflammation in Krabbe disease progression.

23 aspect for the mechanism of pathogenesis in Krabbe disease.

24 erability of various neuronal populations in Krabbe disease.

25 Infantile Krabbe's disease produces progressive neurologic deterio

26 missense mutation in patients with infantile Krabbe disease.

27 unrelated donors in newborns with infantile Krabbe's disease favorably altered the natural history o

28 (age range, 142 to 352 days) with infantile Krabbe's disease underwent transplantation of umbilical-

29 Globoid cell leukodystrophy (Krabbe disease) is characterized by the accumulation of

30 le globoid cell leukodystrophy (GLD) in man (Krabbe disease) and in several other mammalian species,

31 The typical infantile disease in man (Krabbe disease) is caused by deficiency of lysosomal gal

32 the nervous system causing the neurological Krabbe disease.

33 Our study describes a new aspect of Krabbe disease, placing patients at risk of immune-relat

34 evidence of the expression of iNOS in CNS of Krabbe patient and show that the iNOS-expressing cells i

35 In twitcher mice (a model of Krabbe disease [KD]), a central nervous system (CNS)-pen

36 found in nerve samples from a mouse model of Krabbe disease.

37 and ONOO- may play a role in pathogenesis of Krabbe disease.

38 okines may contribute to the pathogenesis of Krabbe's disease.

39 red as protective in our previous studies on Krabbe disease, which is caused by mutations in both GAL

40 Patients with early-onset Krabbe disease (four girls and three boys) underwent dif

41 We report the presentation of late-onset Krabbe's disease in 2 siblings, a 17-year-old boy and hi

42 Globoid cell leukodystrophy (GLD) or Krabbe disease is a devastating, degenerative neurologic

43 Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by

44 ants of human globoid cell leukodystrophy or Krabbe disease, were investigated.

45 Globoid cell leukodystrophy, or Krabbe disease, is a severe, autosomal recessive disorde

46 Globoid cell leukodystrophy, or Krabbe's disease, is a severe disorder of the central an

47 es observed in rhesus macaques affected with Krabbe's disease.

48 In eight patients with Krabbe disease and eight age-matched control subjects, a

49 atrophy of skeletal muscles in patients with Krabbe disease is a major debilitating manifestation tha

50 re of abnormal white matter in patients with Krabbe disease, (b) are more sensitive than T2-weighted

51 of decreased hyperintensity in patients with Krabbe disease.