The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

• Main Authors: L Chkioua (Author), O Grissa (Author), N Leban (Author), M Gribaa (Author), H Boudabous (Author), H Ben Turkia (Author), S Ferchichi (Author), N Tebib (Author), S Laradi (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs). Methods A diagnosis of...