• 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 ...