Direct Diagnosis of Wilson Disease by Molecular Genetics
Open Access
- 31 January 2006
- journal article
- case report
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 148 (1), 138-140
- https://doi.org/10.1016/j.jpeds.2005.07.036
Abstract
No abstract availableKeywords
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- A High Index of Suspicion: The Key to an Early Diagnosis of Wilson's Disease in ChildhoodJournal of Pediatric Gastroenterology and Nutrition, 1999
- The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease geneNature Genetics, 1993
- Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's diseaseHepatology, 1992
- Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson disease in childrenThe Journal of Pediatrics, 1979