Pathophysiology and Clinical Features of Wilson Disease
- 1 December 2004
- journal article
- review article
- Published by Springer Nature in Metabolic Brain Disease
- Vol. 19 (3/4), 229-239
- https://doi.org/10.1023/b:mebr.0000043973.10494.85
Abstract
Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. ATP7B is the gene product of the Wilson...Keywords
This publication has 55 references indexed in Scilit:
- Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.Brain, 2009
- No neurological improvement after liver transplantation for Wilson's diseaseActa Neurologica Scandinavica, 2009
- Structure of the Alzheimer's Disease Amyloid Precursor Protein Copper Binding DomainJournal of Biological Chemistry, 2003
- The Role of the Invariant His-1069 in Folding and Function of the Wilson's Disease Protein, the Human Copper-transporting ATPase ATP7BJournal of Biological Chemistry, 2003
- CERULOPLASMIN METABOLISM AND FUNCTIONAnnual Review of Nutrition, 2002
- Undetectable Intracellular Free Copper: The Requirement of a Copper Chaperone for Superoxide DismutaseScience, 1999
- A murine model of Menkes disease reveals a physiological function of metallothioneinNature Genetics, 1996
- Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysisGastroenterology, 1995
- Evoked potentials in assessment and follow-up of patients with Wilson's diseaseThe Lancet, 1990
- The Use of Trientine in Preventing the Effects of Interrupting Penicillamine Therapy in Wilson's DiseaseNew England Journal of Medicine, 1987