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Gaucher disease and the synucleinopathies: refining the relationship
Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological changes, and orthopaedic complications being...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3295725/ https://ncbi.nlm.nih.gov/pubmed/22289779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-12 |
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