Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: A novel ATP7B mutation in an adult patient

K. F. Kok, B. Hoevenaars, E. Waanders, J. P.H. Drenth

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

6 Citaten (Scopus)

Samenvatting

Wilson's disease (WD) is a disorder of copper metabolism leading to copper accumulation in the liver and in extrahepatic organs, such as brain and cornea. We present a patient with liver disease who did not fulfil the biochemical criteria for WD. Mutational analysis was necessary to make the diagnosis and show a new mutation. Our case supports the use of mutation analysis in cases with unclear liver disease and suggests that the spectrum of WD is broader than currently assumed.

Originele taal-2Engels
Pagina's (van-tot)348-350
Aantal pagina's3
TijdschriftNetherlands Journal of Medicine
Volume66
Nummer van het tijdschrift8
StatusGepubliceerd - sep. 2008
Extern gepubliceerdJa

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