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Gaucher disease and the clinical experience with substrate reduction therapy.
Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the non-neuronopathic form, is rather common and panethnic. Patients may present with hepatosplenomegaly, anaemia, thrombocytopenia and skeletal or lung involvement. Enzyme replacement therapy...
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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2003
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1693183/ https://ncbi.nlm.nih.gov/pubmed/12803930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1098/rstb.2003.1272 |
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