تصفح حسب المؤلف "Harche, Soumaya A"
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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; Al Disi, Rana S; Nofal, Mariam Y; El Bekay, Rajaa; Ahmed, Khalid A; George Priya Doss, C; Zayed, Hatem... more authors ... less 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 ...