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Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Diagnosis of copper transport disorders.
Current Protocols in Human Genetics 2011 July
Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the diagnostic approaches and techniques currently employed for biochemical and molecular assessment of at-risk individuals in whom abnormal copper metabolism is suspected.
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