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Disorders of copper transport.
Br Med Bull. 1999; 55(3):544-55.BM

Abstract

Copper is an essential component of a number of important enzymes. Efficient systems have developed for providing sufficient copper for essential functions, while eliminating excess to avoid tissue toxicity. Copper transport is disrupted in two human diseases: Wilson disease and Menkes disease. Both have defects in copper transporting membrane proteins. Many other proteins are involved in copper transport. Some of these proteins have been identified through a study of the similar copper pathway in yeast. This suggests other copper transport diseases are yet to be discovered. Molecular diagnosis holds promise for reliable diagnosis of patients. Testing of flanking markers is a reliable way to detect presymptomatic sibs of a definite patient.

Authors+Show Affiliations

Department of Medical Genetics, University of Alberta, Edmonton, Canada.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

10746345

Citation

Cox, D W.. "Disorders of Copper Transport." British Medical Bulletin, vol. 55, no. 3, 1999, pp. 544-55.
Cox DW. Disorders of copper transport. Br Med Bull. 1999;55(3):544-55.
Cox, D. W. (1999). Disorders of copper transport. British Medical Bulletin, 55(3), 544-55.
Cox DW. Disorders of Copper Transport. Br Med Bull. 1999;55(3):544-55. PubMed PMID: 10746345.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Disorders of copper transport. A1 - Cox,D W, PY - 2000/4/4/pubmed PY - 2000/5/8/medline PY - 2000/4/4/entrez SP - 544 EP - 55 JF - British medical bulletin JO - Br. Med. Bull. VL - 55 IS - 3 N2 - Copper is an essential component of a number of important enzymes. Efficient systems have developed for providing sufficient copper for essential functions, while eliminating excess to avoid tissue toxicity. Copper transport is disrupted in two human diseases: Wilson disease and Menkes disease. Both have defects in copper transporting membrane proteins. Many other proteins are involved in copper transport. Some of these proteins have been identified through a study of the similar copper pathway in yeast. This suggests other copper transport diseases are yet to be discovered. Molecular diagnosis holds promise for reliable diagnosis of patients. Testing of flanking markers is a reliable way to detect presymptomatic sibs of a definite patient. SN - 0007-1420 UR - https://www.unboundmedicine.com/medline/citation/10746345/Disorders_of_copper_transport_ L2 - https://academic.oup.com/bmb/article-lookup/doi/10.1258/0007142991902619 DB - PRIME DP - Unbound Medicine ER -