Browsing by Subject "Genotype–phenotype correlation"

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    • Canavan disease: an Arab scenario. 

      Zayed, Hatem ( 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. 

      Zayed, Hatem ( 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 ...