Browsing College of Health Sciences by Subject "Genotype–phenotype correlation"
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Canavan disease: an Arab scenario.
( Elsevier Inc. , 2015 , Article)The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with ... -
Propionic acidemia in the Arab World.
( Elsevier , 2015 , Article)The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in ...