Diagnosis and phenotypic classification of Wilson disease 1

@article{Ferenci2003DiagnosisAP,
  title={Diagnosis and phenotypic classification of Wilson disease 1},
  author={P. Ferenci and K. Caca and G. Loudianos and G. Mieli-Vergani and S. Tanner and I. Sternlieb and M. Schilsky and D. Cox and F. Berr},
  journal={Liver International},
  year={2003},
  volume={23}
}
Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is… Expand
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Pathophysiology and Clinical Features of Wilson Disease
  • P. Ferenci
  • Biology, Medicine
  • Metabolic Brain Disease
  • 2004
Wilson’s disease
Insights into the management of Wilson’s disease
Wilson Disease
Wilson disease in children.
Wilson disease--a practical approach to diagnosis, treatment and follow-up.
  • V. Medici, L. Rossaro, G. Sturniolo
  • Medicine
  • Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
  • 2007
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 21 REFERENCES
Common mutations of ATP7B in Wilson disease patients from Hungary.
Molecular analysis and diagnosis in Japanese patients with Wilson’s disease
...
1
2
3
...