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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/β-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 imp...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SMC Media Srl
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829019/ https://www.ncbi.nlm.nih.gov/pubmed/36632535 http://dx.doi.org/10.12890/2022_003705 |