Direct diagnosis of Wilson disease by molecular genetics.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 16423615.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.
Medical subject headings
- Adenosine Triphosphatases
- Cation Transport Proteins
- Hepatolenticular Degeneration
- Mutation