## Communicated by Francesco Giannelli Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: Case report of two siblings
β Scribed by Muhammad U. Farooq; Susan V. Balmer; Steven T. DeRoos; Karen L. Houtman; Kipp L. Chillag
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 384 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0885-3185
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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
## Communicated by David N. Cooper Various types of complex genetic rearrangements involving the iduronate-2-sulfatase (IDS) and its homologous pseudogene (IDS2, IDSP1) have so far been reported as the cause of Mucopolysaccharidosis type II (MPS2 or MPS II; Hunter syndrome). When using conventiona
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog