Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review

BACKGROUND: Wilson’s disease (WD) is a rare autosomal-recessive disorder characterized by a mutation in the ATP7B gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper. CASE PRESENTATION: We described the case of an Indian male with a history of polydipsia and...

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Detaylı Bibliyografya
Asıl Yazarlar: Di Stefano, Valeria, Lionetti, Elena, Rotolo, Novella, La Rosa, Mario, Leonardi, Salvatore
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Kowsar 2012
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3475018/
https://ncbi.nlm.nih.gov/pubmed/23087754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5812/hepatmon.6233
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