Despite a long history, Wilson's disease, an autosomal recessive disease caused by
mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations …

Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the
copper-transporting gene ATP7B. The disease has an autosomal recessive mode of …

Objective To review the current evidence about psychiatric symptoms in Wilson's disease
(WD). Method We searched Ovid, PsychInfo, CINHAL and PubMed databases from May …

Clinical practice guidelines for Wilson's disease (WD) have been published by the American
Association for the Study of Liver Diseases and European Association for the Study of the …

Chorea is one of the major types of involuntary movement disorders originating from
dysfunctional neuronal networks interconnecting the basal ganglia and frontal cortical motor …

The clinical manifestations of Wilson disease (WD) are varied and challenging. We
conducted the current study to present the phenotypic characteristics and follow-up for a …

Background Successful development of new treatments for rare diseases (RDs) and their
sustainable patient access require overcoming a series of challenges related to research …

Copper is an essential trace element required by all living organisms. Excess amounts of
copper, however, results in cellular damage. Disruptions to normal copper homeostasis are …

Background. Little is known about diagnostic errors for a disease worldwide. Such errors
could alter the disease's natural history, especially if unwarranted interventions cause …

Wilson's disease (WD), albeit relatively rare, is an important genetic metabolic disease
because of highly effective therapies that can be lifesaving. It is a great imitator and requires …