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Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease 

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

Chapter:
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Author(s):

Michael L. Schilsky

and Pramod K. Mistry

DOI:
10.1093/med/9780199204854.003.120702

November 28, 2013: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

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date: 25 July 2017

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described.

An uncommon disorder (1 in 30 000) caused by autosomal recessive loss of function mutations in a metal-transporting P-type ATPase (...

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