Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene
β Scribed by MF Coutinho; L Lacerda; MJ Prata; H Ribeiro; L Lopes; C Ferreira; S Alves
- Book ID
- 110888641
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 70 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0009-9163
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π SIMILAR VOLUMES
Mucopolysaccharidosis (MPS) IIIC is an autosomal recessive lysosomal storage disorder caused by a deficiency in heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT). The characteristic feature is the deterioration of the central nervous system, but other symptoms may include coarse f
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