Application | Comment | Organism |
---|---|---|
diagnostics | an assay is developed that can measure small amounts of residual galactosylcerebrosidase activity in leukocytes with high accuracy and can contribute, along with genotyping, biomarker analysis, and neurological imaging, a better plan for post-newborn screening follow-up for Krabbe disease | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P54803 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
lymphocyte | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
GALC | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | Krabbe disease (globoid cell leukodystrophy) is an often fatal lysosomal storage disease caused by the deficiency of the enzyme galactocerebrosidase, resulting in the loss of the myelin sheath in the central nervous system | Homo sapiens |