A century for progress in the diagnosis of Wilson disease

作者:Schilsky Michael L*
来源:Journal of Trace Elements in Medicine and Biology, 2014, 28(4): 492-494.
DOI:10.1016/j.jtemb.2014.06.016

摘要

The diagnosis of Wilson disease has evolved from the original description of a neurological syndrome by Wilson and other contemporaries at the turn of the 20th century to where we recognize that there is a spectrum of clinical liver and neuropsychiatric disease diagnosed by a combination of clinical and biochemical tests and more recently by molecular genetic analysis. The history of the evolution of the findings that help us establish a diagnosis of Wilson disease are presented in the following brief summary of a century of progress toward this end.

  • 出版日期2014