Browsing Biomedical Sciences by Subject "Mutations"

Now showing items 1-3 of 3

    • 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 ...

    • The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity 

      Alaa, Abbas; Hammad, Ayat S; Al-Shafai, Mashael ( Elsevier , 2023 , Article)
      BackgroundGNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gsα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse ...