title: A century for progress in the diagnosis of Wilson disease.
abstract: 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.
authors.affiliation: Yale University School of Medicine, 333 Cedar Street, LMP 1080, New Haven, CT 06520, United States. Electronic address: Michael.Schilsky@yale.edu.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Schilsky
mesh_terms: D003955:Diagnostic Tests, Routine / Q000266:history / Q000639:trends; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D049673:History, 20th Century; D006801:Humans