Browsing by Subject "N-acetyl-aspartate"

Now showing items 1-2 of 2

    • Novel mutation in an Egyptian patient with infantile Canavan disease. 

      Zaki, Osama K; El Abd, Heba S; Mohamed, Shaimaa A; Zayed, Hatem ( Springer Verlag (Germany) , 2016 , Article)
      Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation ...

    • Two patients with Canavan disease and structural modeling of a novel mutation. 

      Zaki, Osama K; Krishnamoorthy, Navaneethakrishnan; El Abd, Heba S; Harche, Soumaya A; Mattar, Reem A; ... more authors ( Springer US , 2017 , Article)
      Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis ...