Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
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Gaucher disease

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

Cyanosis

Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.

Total: 1

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PMID (PMCID)
10069725	MALE	Child
	Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA.
	Kim JH, Park CH, Pai MS, Hahn MH, Kim HJ. Clin Nucl Med. 1999;24(3):164-6.
	A patient with Gaucher disease with the hepatopulmonary syndrome associated with severe cyanosis and hypoxemia was examined for intrapulmonary right-to-left shunt using Tc-99m MAA.