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Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigas...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Kim, Yoo-Mi, Shin, Dong Hoon, Park, Su Bum, Cheon, Chong Kun, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5433137/
https://ncbi.nlm.nih.gov/pubmed/28506293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0403-x
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