Ontology highlight
ABSTRACT:
SUBMITTER: Bandmann O
PROVIDER: S-EPMC4336199 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Bandmann Oliver O Weiss Karl Heinz KH Kaler Stephen G SG
The Lancet. Neurology 20150101 1
The copper metabolism disorder Wilson's disease was first defined in 1912. Wilson's disease can present with hepatic and neurological deficits, including dystonia and parkinsonism. Early-onset presentations in infancy and late-onset manifestations in adults older than 70 years of age are now well recognised. Direct genetic testing for ATP7B mutations are increasingly available to confirm the clinical diagnosis of Wilson's disease, and results from biochemical and genetic prevalence studies sugge ...[more]