Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

• Main Authors: A. N. Semyachkina (Author), E. Y. Voskoboeva (Author), E. Y. Zakharova (Author), E. A. Nikolaeva (Author), I. V. Kanivets (Author), A. D. Kolotii (Author), G. V. Baydakova (Author), M. N. Kharabadze (Author), R. G. Kuramagomedova (Author), N. V. Melnikova (Author)
• Format: Book
• Published: BMC, 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 1...