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Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B, cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More t...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746050/ https://www.ncbi.nlm.nih.gov/pubmed/24010089 http://dx.doi.org/10.5223/pghn.2012.15.4.197 |