ライフサイエンスコーパス: Canavan disease

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1 ion aspartoacylase mutations associated with Canavan Disease.

2 bral cortical thinning in an animal model of Canavan disease.

3 ng to preliminary studies in 2 children with Canavan disease.

4 iency of ASPA and should therefore result in Canavan disease.

5 nown patient of African-American origin with Canavan disease.

6 ith aspartoacylase that, when mutated, cause Canavan disease.

7 ial abnormalities such as Leighs disease and Canavans disease.

8 the central nervous system (CNS), result in Canavan Disease, a fatal dysmyelinating disease.

9 n lipids, and defects in this enzyme lead to Canavan disease, a fatal neurological disorder.

10 of the brain and is the established cause of Canavan disease, a fatal progressive leukodystrophy affe

11 tion of N-acetyl-l-aspartate, correlate with Canavan Disease, a neurodegenerative disorder usually fa

12 ve in vivo gene therapy for the treatment of Canavan disease and other neurological disorders, we dev

13 ral to the understanding the pathogenesis of Canavan disease and to the development of therapeutic st

14 The majority of patients with Canavan disease are from an Ashkenazi Jewish background.

15 Canavan disease (CD) is a severe, lethal leukodystrophy

16 Mutations in the gene coding ASPA cause Canavan disease (CD), an autosomal recessive neurodegene

17 childhood autosomal recessive leukodystrophy Canavan disease (CD).

18 Aspartoacylase (ASPA)-deficient patients [Canavan disease (CD)] reportedly have increased urinary

19 , eight Gaucher mutations, four mutations in Canavan disease, four mutations in Fanconi anemia, and f

20 was aimed at finding the molecular basis of Canavan disease in 25 independent patients of non-Jewish

21 Canavan disease is a fatal neurological disorder caused

22 Canavan disease is a leukodystrophy caused by aspartoacy

23 Canavan disease is caused by inactivating ASPA (aspartoa

24 Canavan disease is inherited as an autosomal recessive t

25 partoacylase (ASPA), the defective enzyme in Canavan disease, is detectable in the brain only in the

26 tion and prevents leukodystrophy in a murine Canavan disease model.

27 P183H, M195R, K213E/G274R, G274R, and F295S) Canavan Disease mutations resulted in undetectable enzym

28 In children with Canavan disease, neuroimaging shows early-onset dysmyeli

29 neurodegenerative disease in 2 children with Canavan disease to assess the in vivo toxicity and effic

30 ration of NAA in the brains of children with Canavan disease would prevent or slow progression of neu

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