Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey
Makaleler > Tam Makale · 2018
Yazarlar: Havva YAZICI, Ebru CANDA, Esra Er, Sema KALKAN UÇAR, HÜSEYİN ONAY, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 5, ss 34-38
DOI: 10.4274/jpr.36025
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.