Browsing by Author "Mohamed, Shaimaa A"
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Novel mutation in an Egyptian patient with infantile Canavan disease.
( 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 ...