## Communicated by William Sly Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
โ Scribed by Tomomi Kato; Zenichiro Kato; Izumi Kuratsubo; Noboru Tanaka; Tabito Ishigami; Jun-ichi Kajihara; Kazuko Sukegawa-Hayasaka; Koji Orii; Koji Isogai; Toshiyuki Fukao; Nobuyuki Shimozawa; Tadao Orii; Naomi Kondo; Yasuyuki Suzuki
- Publisher
- Nature Publishing Group
- Year
- 2005
- Tongue
- English
- Weight
- 356 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1435-232X
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๐ SIMILAR VOLUMES
## Communicated by Andreas Gal Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). Seven MPS VI patients were chosen for the initial clinical trial of enzyme replacement therapy. Dir
Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot