Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Hypercholesterolemia

An increased concentration of cholesterol in the blood.

Total: 1

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PMID (PMCID)
3912072	MIXED_SAMPLE	Infant
	[Liver transplantation in children].
	Otte JB, de Hemptine B, Moulin D, Veyckemans F, Carlier MA, Buts JP, Claus D, Reynaert M, de Ville de Goyet J, Rahier J, et al.. Chir Pediatr. 1985;26(5):261-73.
	b) the metabolic diseases resulting either in cirrhosis with liver failure (alpha-1-antitrypsin deficiency, Wilson disease, glycogen storage disease type I and IV, protoporphyria) or in extrahepatic complications of enzymatic deficiency of an otherwise normally functioning liver (Crigler-Najjar syndrome type I, familial hypercholesterolemia and perhaps oxalosis).