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Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

โœ Scribed by Dr. Shunji Tomatsu; Seiji Fukuda; Alan Cooper; James E. Wraith; Atsushi Yamagishi; Zenichiro Kato; Naoto Yamada; Kouji Isogai; Kazuko Sukegawa; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Tadao Orii


Book ID
102261658
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
339 KB
Volume
11
Category
Article
ISSN
1059-7794

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Molecular analysis of Turkish mucopolysa
โœ Mugen Terzioglu; Aysegul Tokatli; Turgay Coskun; Serap Emre ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 40 KB ๐Ÿ‘ 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