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

• मुख्य लेखकों: L Chkioua (लेखक), O Grissa (लेखक), N Leban (लेखक), M Gribaa (लेखक), H Boudabous (लेखक), H Ben Turkia (लेखक), S Ferchichi (लेखक), N Tebib (लेखक), S Laradi (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...