Article
Arylsulfatase A pseudodeficiency incidence in Turkey.
The Turkish journal of pediatrics - 1 Jan 2000
Emre S, Topçu M, Terzioğlu M, Renda Y
Abstract excerpt
Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy. Twelve of the 52 unrelated, healthy individuals were found to...
Topics
- Adult
- Age Factors
- Cerebroside-Sulfatase
- Child
- Gene Frequency
- Genotype
- Humans
- Leukodystrophy, Metachromatic
- Mutation
- Polymerase Chain Reaction
- Turkey
