Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

• Main Authors: Havva Yazıcı (Author), Ebru Canda (Author), Esra Er (Author), Sema Kalkan Uçar (Author), Hüseyin Onay (Author), Ferda Özkınay (Author), Mahmut Çoker (Author)
• Format: Book
• Published: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, b...