Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that
is characterized by the pathological accumulation of copper. WD is caused by mutations in …

The aim of this review is to give a general view on the current status of the scientific basis for
the role of copper in human health and disease, outlining the roles of copper in human …

The diagnosis of Wilson disease (WD) is challenging, especially in children. Early detection
is desirable in order to avoid dramatic disease progression. The aim of our study was to re …

Abstract Wilson's disease (WD), which results from the defective ATP7B protein product, is
characterized by impaired copper metabolism and its clinical consequences vary from an …

Background and aims: Wilson disease (WD) is an inherited disorder of copper metabolism.
When treated, the outcome can be excellent, although the long‐term survival has yet to be …

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 …

Next generation sequencing (NGS) has revolutionized the analysis of human genetic
variations, offering a highly cost‐effective way to diagnose monogenic diseases (MDs) …

Wilson disease (WD) is a complex condition due to copper accumulation mainly in the liver
and brain. The genetic base of WD is represented by pathogenic mutations of the copper …

Wilson's disease (WD) is a severe disorder of copper misbalance, which manifests with a
wide spectrum of liver pathology and/or neurologic and psychiatric symptoms. WD is caused …

Background Mutations in the gene ATP7B cause Wilson disease, a copper storage disorder
with a high phenotypic and genetic heterogeneity. We aimed to evaluate …