Article
Sanfilippo B disease: a re-examination of a particular sibship after 12 years.
Journal of inherited metabolic disease - 1 Jan 1991
Di Natale P
Abstract excerpt
A particular sibship, with mild and severe types of Sanfilippo B disease within the same family, was re-examined after 12 years. The phenotypes of the mild and of the severe patients were maintained, specifically the mental retardation. Cultures of lymphoblasts from the mild patient were established and proteins were electrophoresed in native conditions and then immunoblotted with specific antibody. Two bands of...
Topics
- Acetylglucosaminidase
- Adult
- Electrophoresis, Polyacrylamide Gel
- Family
- Female
- Humans
- Immunoblotting
- Intellectual Disability
- Lymphocytes
- Mucopolysaccharidosis III
- Phenotype
- Proteins