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The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. We investigated the heterogeneity and natural course of N370S GD in 403 patients. Demographic, clinical, and...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3008404/ https://ncbi.nlm.nih.gov/pubmed/19260119 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.21362 |
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