Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat
Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients
β Scribed by Guglielmo R. D. Villani; Nicola Balzano; Michela Grosso; Francesco Salvatore; Paola Izzo; Paola Di Natale
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 102 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patie
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneration r
Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB: EC 3.1.6.12). Three classical forms of the disease have been differentiated: severe, intermedia