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A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Genetic counseling (Geneva, Switzerland), 2012Canavan disease (CD) is an autosomal recessive inherited disorder characterized by spongy degeneration of the brain. The deficiency of aspartoacylase (ASPA), resulting in the accumulation of N-acetyl aspartic acid (NAA) in the brain, plays an important role in the pathogenesis of the disease.
Gungor, H. Eke +3 more
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Aspartoacylase deficiency and Nâacetylaspartic aciduria in patients with canavan disease
American Journal of Medical Genetics Part A, 1988Reuben Matalon
exaly
Developmental and regional distribution of aspartoacylase in rat brain tissue
Journal of Neurochemistry, 2008Kishore Bhakoo, Peter Styles
exaly
[Canavan disease (aspartoacylase deficiency)].
Ryoikibetsu shokogun shirizu, 2002K, Kobayashi, S, Tsujino
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Reexamination of aspartoacylase: Is this human enzyme really a glycoprotein?
Archives of Biochemistry and Biophysics, 2014Qinzhe Wang, Ronald E Viola
exaly
[Canavan disease (aspartoacylase deficiency)].
Ryoikibetsu shokogun shirizu, 1998K, Kobayashi, N, Sakuragawa
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