7b. Type 3 Gaucher disease - Pediatrics: Spot the Early Signs of Gaucher Diseases


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Abrahamov, A. Lancet 346: 1000-1003, 1995.; Bohlega, S. Neurology 54: 261-263, 2000
Chabas, A. J. Med. Genet. 32: 740-742, 1995.; Uyama, E. Acta Neurol. Scand. 86: 407-420, 1992.

Type 3c Gaucher Disease is a unique type of Gaucher Disease, it has a specific OMIM designation shown here, and the hallmark of this type of Gaucher Disease is the presence of cardiac involvement, cardiac calcification of the aortic valve, of the aorta as well as proximal coronary artery disease and valvular calcification, the presence of Gaucher cells.

 

 

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