Article
Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology - 1 Jan 2000
El-Mougy Fatma A, Sharaf Sahar A A, Elsharkawy Marwa M, Mandour Iman A, El-Essawy Riham A, Eldin Abeer M, Helmy Heba M, Soliman Dina H, Selim Lamia H, Sharafeldin Heba M, Mogahed Engy A, El-Karaksy Hanaa M
Abstract excerpt
BACKGROUND AND STUDY AIMS: Wilson disease (WD) is an autosomal recessive disorder, caused by defects in copper-transporting P-type adenosine triphosphatase (ATPase) encoded by the ATP7B gene, resulting in the deposition of copper in the liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early. The...
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