Lataa...
Wilson’s Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings
Wilson’s Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical...
Tallennettuna:
| Päätekijät: | , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
JCDR Research and Publications (P) Limited
2013
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3749670/ https://ncbi.nlm.nih.gov/pubmed/23998100 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2013/5974.3188 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|