Molecular analysis of Turkish mucopolysa
✍
Mugen Terzioglu; Aysegul Tokatli; Turgay Coskun; Serap Emre
📂
Article
📅
2002
🏛
John Wiley and Sons
🌐
English
⚖ 40 KB
👁 2 views
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate