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- W4313406211 abstract "Gaucher disease (GD) is a rare, autosomal recessive genetic disease caused by deficiency of a lysosomal enzyme (glucocerebrosidase and B-glucosidase) that leads to the accumulation of its substrate in lysosomal macrophages. GD remains rare and delayed diagnosis is common due its gradual onset. It is important to include this differential diagnosis in cases of massive splenomegaly and/or thrombocytopenia, in order to avoid potentially harmful splenectomy. This case report describes a 25 year old female patient with a 10 year medical history of anaemia and thrombocytopenia, who presented with symptoms of haemorrhagic dyscrasia, pancytopenia and massive splenomegaly. The differential diagnosis of massive splenomegaly included several conditions which were considered but ruled out. Because of a lack of resources, the patient was forwarded to a reference centre where the diagnosis of GD was made" @default.
- W4313406211 created "2023-01-06" @default.
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- W4313406211 date "2022-12-19" @default.
- W4313406211 modified "2023-10-18" @default.
- W4313406211 title "Gaucher Disease: One of the Few Causes of Massive Splenomegaly" @default.
- W4313406211 cites W2908574190 @default.
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- W4313406211 doi "https://doi.org/10.12890/2022_003705" @default.
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- W4313406211 hasPublicationYear "2022" @default.
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