Associated Papers
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Journal of Inherited Metabolic Disease, 2002
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Elpeleg ON et al.
Journal of Inherited Metabolic Disease, 1999
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
Kaul R et al.
American Journal of Human Genetics, 1996
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