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The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease i...
Guardat en:
| Publicat a: | Diseases |
|---|---|
| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5456331/ https://ncbi.nlm.nih.gov/pubmed/28933363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diseases5010010 |
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