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-2 | Engels |
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Pagina's (van-tot) | 348-350 |
Aantal pagina's | 3 |
Tijdschrift | Netherlands Journal of Medicine |
Volume | 66 |
Nummer van het tijdschrift | 8 |
Status | Gepubliceerd - sep. 2008 |
Extern gepubliceerd | Ja |