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Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement

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 su...

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Detalhes bibliográficos
Publicado no:Clin Cardiol
Main Authors: Cindik, N., Ozcay, F., Süren, D., Akkoyun, I., Gökdemir, M., Varan, B., Alehan, F., Ozbek, N., Tokel, K.
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Periodicals, Inc. 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6653081/
https://ncbi.nlm.nih.gov/pubmed/19816973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/clc.20348
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