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- W2603661660 abstract "Gauchers disease is an autosomal recessive, lipid storage (sphingolipid) disorder caused by mutations in the beta-glucocerebrosidase gene leading to deficient activity of enzyme. There are three types of Gauchers disease out of which Type 1 Gaucher's disease is most common and usually presents as Splenohepatomegaly. Here we are reporting a case of type-1 Gaucher's disease presenting with isolated splenomegaly at a younger age (2 year)." @default.
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- W2603661660 date "2017-02-01" @default.
- W2603661660 modified "2023-09-24" @default.
- W2603661660 title "Gaucher's disease in a child with Isolated Splenomegaly - An unusual clinical presentation" @default.
- W2603661660 doi "https://doi.org/10.7439/ijbar.v8i1.3906" @default.
- W2603661660 hasPublicationYear "2017" @default.
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