Beta-glucosidase was determined in leukocyte homogenates of a male child with Gaucher's disease and members of his family. An important difference in enzyme activity was found in the heterozygous gene carriers; in one obligate heterozygote, the mother, a high residual enzyme capacity was detected. Various methods of enzyme determination using various substrates are recommended for the detection of the gene carrier condition.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
child gaucher's
8
gaucher's disease
8
leukocyte beta-glucosidase
4
beta-glucosidase child
4
disease kinship
4
kinship beta-glucosidase
4
beta-glucosidase determined
4
determined leukocyte
4
leukocyte homogenates
4
homogenates male
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!