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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 ...
Two patients with Canavan disease and structural modeling of a novel mutation.
(
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 ...
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
(
Springer US
, 2017 , Article)
Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, ...