Research Article Details
| Article ID: | A46700 |
| PMID: | 16423615 |
| Source: | J Pediatr |
| Title: | Direct diagnosis of Wilson disease by molecular genetics. |
| 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. |
| DOI: | 10.1016/j.jpeds.2005.07.036 |
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