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Biochemical diagnosis of neurodegenerative diseases gets closer

โœ Scribed by Lucilla Parnetti


Book ID
114409731
Publisher
The Lancet
Year
2011
Tongue
English
Weight
647 KB
Volume
10
Category
Article
ISSN
1474-4465

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Biochemical diagnosis of Canavan disease
โœ G. Bartalini; M. Margollicci; P. Balestri; M. A. Farnetani; M. Cioni; A. Fois ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 261 KB

Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme