- Article
- Source: Campus Sanofi
- 20 May 2025
Diagnosis of Gaucher disease
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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
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Mistry PK, et al. Am J Hematol. 2011. 86(1):110–115.
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Mehta A. Eur J Intern Med. 2006;17 Suppl: S2–S5. REFERENCES
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Hannah-Shmouni F, et al. Mol Genet Metab Rep. 2019;18:19–21.
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