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


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Yazici H., Canda E., Er E., Ucar S. K. , Onay H. , Ozkinay F. , et al.

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, ss.34-38, 2018 (ESCI İndekslerine Giren Dergi)

  • Cilt numarası: 5 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.36025
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayısı: ss.34-38

Özet

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, biochemical and molecular characteristics of fifteen patients with MPS II in western Turkey.