Evolving Perspectives in Wilson Disease: Diagnosis, Treatment and Monitoring
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11894-011-0227-3.pdf
Reference67 articles.
1. Ala A, Walker AP, Ashkan K, et al. Wilson’s disease. Lancet. 2007;369(9559):397–408.
2. Gitlin JD. Wilson disease. Gastroenterology. 2003;125(6):1868–77.
3. Lang PA, Schenck M, Nicolay JP, et al. Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. Nat Med. 2007;13(2):164–70.
4. •• Zischka H, Lichtmannegger J, Schmitt S, et al. Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J Clin Invest. 2011;121(4):1508–18. This study suggest that mitochondria is a pivotal target of copper toxicity. Zischka and co workers also show that chelating agents directly restore copper induced intra-mitochandial crosslinking.
5. Gromadzka G, Rudnicka M, Chabik G, et al. Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson’s disease. J Hepatol. 2011.
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