Article
Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.
Developmental neuroscience - 1 Jan 1991
Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, Fukuhara Y
Abstract excerpt
Results of a molecular analysis of GM1-gangliosidosis and galactosialidosis in our laboratory are briefly reviewed. A common single base substitution was found in adult/chronic form of GM1-gangliosidosis among heterogeneous beta-galactosidase gene mutations, and restriction site analysis was successfully performed for diagnosis of homozygotes and heterozygotes. All adult galactosialidosis patients had a common...
Topics
- Adolescent
- Adult
- Base Sequence
- Carbohydrate Metabolism, Inborn Errors
- Carboxypeptidases
- Cathepsin A
- Child
- Child, Preschool
- DNA Mutational Analysis
- Gangliosidosis, GM1
- Gene Expression Regulation, Enzymologic