Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report
Abstract Background Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line ther...
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| Format: | Article |
| Language: | English |
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BMC
2018-10-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | http://link.springer.com/article/10.1186/s13256-018-1848-z |