Article
Laboratory and genetic evaluation of Gaucher disease.
Wiener medizinische Wochenschrift (1946) - 1 Dec 2010
Bodamer Olaf A, Hung Christina
Abstract excerpt
Gaucher disease (GD) is an inherited lysosomal storage disorder due to deficiency of glucocerebrosidase. Diagnosis of GD may be suspected based on clinical symptoms and confirmed by the analysis of glucocerebrosidase in total white cells, mononuclear cells, fibroblasts and dried blood on filter paper. Low enzyme activities should be followed by molecular analysis of the GBA gene. Although there is no obvious...
Topics
- Algorithms
- Alleles
- Chemokines, CC
- Chromosomes, Human, Pair 1
- DNA Mutational Analysis
- Diagnosis, Differential
- Exons
- Female
- Gaucher Disease
- Gene Expression
- Genetic Markers
- Genotype
- Glucosylceramides
- Glycolipids
- Hexosaminidases
- Humans
- Infant, Newborn
- Mononuclear Phagocyte System