Associated Papers
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 2024
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.
Grønbæk-Thygesen M et al.
Cell & Bioscience, 2024
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Novel mutation in an Egyptian patient with infantile Canavan disease.
Zaki OK et al.
Metabolic Brain Disease, 2016
Structural modeling of p.V31F variant in the aspartoacylase gene.
Krishnamoorthy N et al.
Metabolic Brain Disease, 2016
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