Wilson disease

Definition:

Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver.

References:

[1]. Aftab Ala, et al. Wilson's disease. Lancet. 2007 Feb 3;369(9559):397-408. [Content Brief]

[2]. François Durand, et al. Wilson's disease: an old disease keeps its old secrets. Eur J Gastroenterol Hepatol. 2007 Feb;19(2):97-9. [Content Brief]

[3]. P de Bie, et al. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007 Nov;44(11):673-88. [Content Brief]

[4]. V Medici, et al. Wilson disease--a practical approach to diagnosis, treatment and follow-up. Dig Liver Dis. 2007 Jul;39(7):601-9. [Content Brief]

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