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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Splenic abscess in a patient with type 3 Gaucher's disease receiving enzyme replacement therapy
1Departments of Paediatrics and Clinical Genetics, Royal Alexandra Hospital for Children, Sydney, New South Wales, Australia.
Abstract:
We report the rare complication of a splenic abscess in an 11-year-old girl with type 3 Gaucher's disease, massive splenomegaly, and a splenic cyst after commencement of enzyme replacement therapy. This case highlights potential difficulties in establishing the diagnosis of splenic abscess in the presence of pre-existing splenic pathology.
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