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Gaucher's disease with uncommon presentations
Gaucher's disease is the most common lysosomal storage disorder gene defect, which leads to deficiency or decreased activity of glucocerebrosidase, followed by accumulation of glucosylceramide. There is autosomal recessive transmission leading to varied clinical manifestations. This disease has...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications Pvt Ltd
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168013/ https://www.ncbi.nlm.nih.gov/pubmed/21938170 http://dx.doi.org/10.4103/0970-9371.59399 |