Gaucher

Gaucher disease in children

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the GBA1 gene, resulting in deficient activity of the enzyme acid β glucosidase.

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.

Diagnostic Algorithm

Accelerate the identification of rare diseases

accelRare^® is a pre-diagnosis and differential diagnosis tool. Developed, tested and validated in collaboration with 67 European rare disease specialists across multiple disciplines.

The Hematology Podcast

The Hematology Podcast - Season 5

Lunch & Learn Webinar #2 - Biomarkers in Lysosomal Storage Diseases