Article
Molecular defects in Sanfilippo syndrome type A.
Human molecular genetics - 1 May 1997
Blanch L, Weber B, Guo X H, Scott H S, Hopwood J J
Abstract excerpt
Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate. In this study, molecular defects in the sulphamida...
Topics
- Age of Onset
- Americas
- Australia
- Child
- Child, Preschool
- DNA Mutational Analysis
- Humans
- Hydrolases
- Mucopolysaccharidosis III
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic