Article
Molecular basis of different forms of metachromatic leukodystrophy.
The New England journal of medicine - 3 Jan 1991
Polten A, Fluharty A L, Fluharty C B, Kappler J, von Figura K, Gieselmann V
Abstract excerpt
BACKGROUND: Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A. Three forms of the disease can be distinguished according to severity and the age at onset: late infantile (1 to 2 years), juvenile (3 to 16), and adu...
Topics
- Adolescent
- Alleles
- Base Sequence
- Cerebroside-Sulfatase
- Child
- Child, Preschool
- DNA
- Heterozygote
- Homozygote
- Humans
- Infant
- Leukodystrophy, Metachromatic
- Molecular Sequence Data