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- W2530051816 abstract "Gaucher disease (GD) is the most prevalent lysosomal storage disease resulting in accumulation of glucoceramide in lysosomes of the reticuloendothelial system. There are three clinical types of GD; the most common of which is type 1. The clinical spectrum is variable with patients developing anemia, evidence of hypersplenism and pathological fractures that are due to bone involvement, nevertheless, many have a normal life span. A case of typical type 1 GD but with atypical skin pigmentation in a Palestinian patient with strong family history of skin hyperpigmintation and hypersplenism is reported Key words: Gaucher Disease, Lysosomal storage disease, Glucoceramide" @default.
- W2530051816 created "2016-10-21" @default.
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- W2530051816 date "2016-01-01" @default.
- W2530051816 modified "2023-10-15" @default.
- W2530051816 title "Gaucher Disease presenting with atypical skin pigmentation in an Arab patient" @default.
- W2530051816 doi "https://doi.org/10.4103/1947-489x.210216" @default.
- W2530051816 hasPublicationYear "2016" @default.
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