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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity
Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is most severe, presenting pre- or perinatally, or in the first few months of lif...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3018671/ https://ncbi.nlm.nih.gov/pubmed/20880730 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2010.08.012 |
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