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- W2614186887 abstract "Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both. Improvement in the gastroduodenal infiltration and reduced chitotriosidase levels were observed in one who switched to eliglustat tartrate for 1 year, whereas the other one who maintained ERT showed no improvement of chitotriosidase level and persistent duodenal lesions. This shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT." @default.
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- W2614186887 date "2017-05-15" @default.
- W2614186887 modified "2023-10-06" @default.
- W2614186887 title "Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy" @default.
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- W2614186887 doi "https://doi.org/10.1186/s12881-017-0403-x" @default.
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