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Related Experiment Video

Updated: Jun 2, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
06:52

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

Published on: April 28, 2023

Wilson's disease.

Ronald F Pfeiffer1

  • 1Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA. rpfeiffer@utmem.edu

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Wilson's disease, a genetic disorder caused by ATP7B gene mutations, involves copper accumulation. Early diagnosis and persistent treatment are crucial for managing this challenging condition.

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Published on: September 7, 2019

Related Experiment Videos

Last Updated: Jun 2, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
06:52

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

Published on: April 28, 2023

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
11:04

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides

Published on: September 7, 2019

Area of Science:

  • Genetics
  • Hepatology
  • Neurology

Background:

  • Wilson's disease is a rare genetic disorder characterized by impaired copper excretion.
  • It results from mutations in the ATP7B gene, leading to copper accumulation in organs like the liver and brain.

Observation:

  • The pathophysiologic basis involves the inability to excrete copper via the biliary system.
  • This leads to progressive copper deposition, primarily affecting the liver and central nervous system.

Findings:

  • Significant advances have been made in understanding the genetic and pathophysiologic mechanisms of Wilson's disease.
  • Effective diagnostic and treatment strategies are now available for managing the disorder.

Implications:

  • Despite advances, Wilson's disease presents diagnostic and therapeutic challenges due to its varied clinical presentations.
  • Dedicated and persistent management is essential for efficient diagnosis and effective amelioration of symptoms.