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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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Detalhes bibliográficos
Main Authors: Gupta, N, Oppenheim, IM, Kauvar, EF, Tayebi, N, Sidransky, E
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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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