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A case of Canavan disease: the first biochemically proven case in a Japanese girl

✍ Scribed by Hamaguchi, Hiroshi; Nihei, Kenji; Nakamoto, Natsue; Ezoe, Takanori; Naito, Haruko; Hara, Michiko; Yokota, Kazuko; Inoue, Yoshito; Matsumoto, Isamu

Book ID
123583845
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
492 KB
Volume
15
Category
Article
ISSN
0387-7604

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πŸ“œ SIMILAR VOLUMES

Localized 1H NMR spectroscopy in Canavan
Localized 1H NMR spectroscopy in Canavan's Disease: A report of two cases
✍ S. J. Austin; A. Connelly; D. G. Gadian; J. S. Benton; E. M. Brett πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 400 KB

## Abstract Two children with Canavan's Disease, an autosomal recessive leukodystrophy, were studied by localized ^1^H spectroscopy. The __N__‐acetylaspartate (NAA) signal intensity was high relative to other metabolite signals, and the signal intensity from choline‐containing compounds was low. Th