Article
Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.
Biochemical medicine and metabolic biology - 1 Oct 1993
Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda M C
Abstract excerpt
Detection of Portuguese carriers for Gaucher disease with urine samples as a source of enzyme was carried out using an immunological procedure employing an anti-glucocerebrosidase monoclonal antibody and by DNA analysis for the presence of the two glucocerebrosidase mutations most frequently found in Portuguese Gaucher patients. Patients, obligate and putative carriers, and individuals unrelated to patients were...
Topics
- Adolescent
- Adult
- Aged
- Antibodies, Monoclonal
- Child
- DNA Mutational Analysis
- Female
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Heterozygote
- Humans