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• W2003452092 abstract "A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery. Copyright © 2009 Wiley Periodicals, Inc." @default.
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• W2003452092 date "2009-10-08" @default.
• W2003452092 modified "2023-10-06" @default.
• W2003452092 title "Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement" @default.
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• W2003452092 doi "https://doi.org/10.1002/clc.20348" @default.
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