Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
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ABSTRACT:
SUBMITTER: Gupta N
PROVIDER: S-EPMC3018671 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Publications
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Gupta N N Oppenheim I M IM Kauvar E F EF Tayebi N N Sidransky E E
Blood cells, molecules & diseases 20100928 1
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 the most severe, presenting pre- or perinatally, or in the first few months of life. Traditionally, type 2 GD was considered to have the most uniform clinical phenotype when compared to other GD subtypes. However, case studies over time have demonstrated that type 2 GD, like ty ...[more]
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