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Expanding spectrum of the association between type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types – correlation with genotype and phenotype

BACKGROUND: In Gaucher disease (GD), inherited deficiency of lysosomal glucocerebrosidase due to mutations in GBA1 gene results in accumulation of glucosylceramide in tissue macrophages, systemic macrophage activation, and a complex multisystemic phenotype. We and others have reported an increased r...

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Autori principali: Lo, Sarah M., Stein, Philip, Mullaly, Sean, Bar, Michael, Jain, Dhanpat, Pastores, Gregory M., Mistry, Pramod K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2875938/
https://ncbi.nlm.nih.gov/pubmed/20425796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.21684
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