ライフサイエンスコーパス: Krabbe disease

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1 missense mutation in patients with infantile Krabbe disease.

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

3 erability of various neuronal populations in Krabbe disease.

4 aspect for the mechanism of pathogenesis in Krabbe disease.

5 the nervous system causing the neurological Krabbe disease.

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

7 of decreased hyperintensity in patients with Krabbe disease.

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

9 novel target to complement in therapies for Krabbe disease.

10 ychosine, the neurotoxin that accumulates in Krabbe disease.

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

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

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

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

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

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

17 Krabbe disease is a devastating neurodegenerative diseas

18 Krabbe disease is a devastating pediatric leukodystrophy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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