Gaucher Disease: One of the Few Causes of Massive Splenomegaly
Gaucher disease (GD) is a rare, autosomal recessive genetic disease caused by deficiency of a lysosomal enzyme (glucocerebrosidase and B-glucosidase) that leads to the accumulation of its substrate in lysosomal macrophages. GD remains rare and delayed diagnosis is common due its gradual onset. It is...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SMC MEDIA SRL
2022-12-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/3705 |