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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 ...
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 ...