Gaucher
Artikler
Understanding Gaucher Disease: Symptoms, Classification, and Clinical Presentation
Gaucher disease is a lysosomal storage disorder caused by a pathogenic variant in the gene responsible for producing the enzyme acid β-glucosidase. More than 300 alleles carrying pathogenic variants have already been identified.1
Diagnostic and confirmation testing
Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.
