Article
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
Liver international : official journal of the International Association for the Study of the Liver - 1 Jan 2011
Bruha Radan, Marecek Zdenek, Pospisilova Lenka, Nevsimalova Sona, Vitek Libor, Martasek Pavel, Nevoral Jiri, Petrtyl Jaromir, Urbanek Petr, Jiraskova Alena, Ferenci Peter
Abstract excerpt
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 well documented. The aim of this study was to describe the long-term outcome of a cohort of patients with WD and to assess those factors affecting the phenotypic manifestation of WD. METHODS: The presence of mutations to the ATP7B gene,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.