{
event: "article_read",
name: `Gaucher`,
author: ``,
tags: `Rare Diseases | Gaucher`,
publication_date: ``,
interaction_type: "content"
}
Gaucher
Understanding gaucher disease type 1
GD is the most common LSD caused by a deficiency in glucocerebrosidase enzyme. GD patients may experience 10 years of diagnostic delay.
Test for diagnosis
- Enzyme activity test on DBS
- Whole blood sample analysis to confirm diagnosis
- Mistry PK, et al. Am J Hematol. 2011. 86(1):110–115.
- Mehta A. Eur J Intern Med. 2006;17 Suppl: S2–S5. REFERENCES
- Hannah-Shmouni F, et al. Mol Genet Metab Rep. 2019;18:19–21.
MAT-BH-2600129-V1-May-2026