Associated Papers
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.
Rossler L et al.
Journal of Ultrasound, 2023
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Molecular Genetics and Metabolism, 0
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