5184
Nagham Maher Elsayed
Mutation analysis of the Aryl-sulfatase B gene among Egyptian patients with Maroteaux-Lamy syndrome
MPS6, Maroteaux-Lamy, Aryl-sulfatase B gene, dermatan sulfate
MPS VI (Maroteaux-Lamy syndrome) is a lysosomal storage disorder in which the deficiency of ARSB enzyme leads to the storage of glycosaminoglycans in connective tissue. It is involved in the degradation of dermatan sulfate. The storage of dermatan sulphate disrupts normal cellular functions which eventually causes the clinical symptoms. The main symptoms include short stature, skeletal deformities, coarse facial features, corneal clouding, umbilical or inguinal hernias, cardiac problems and hepatosplenomegaly.
2016
Ph.d
Al-Azhar
Pharmacy