Rapid and reliable diagnosis of Wilson disease using X‐ray fluorescence

Wilson's disease (WD) is a rare autosomal recessive disease due to mutations of the gene encoding the copper‐transporter ATP7B. The diagnosis is hampered by the variability of symptoms induced by copper accumulation, the inconstancy of the pathognomonic signs and the absence of a reliable diagn...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Pathol Clin Res
Main Authors: Kaščáková, Slávka, Kewish, Cameron M., Rouzière, Stéphan, Schmitt, Françoise, Sobesky, Rodolphe, Poupon, Joël, Sandt, Christophe, Francou, Bruno, Somogyi, Andrea, Samuel, Didier, Jacquemin, Emmanuel, Dubart‐Kupperschmitt, Anne, Nguyen, Tuan Huy, Bazin, Dominique, Duclos‐Vallée, Jean‐Charles, Guettier, Catherine, Le Naour, François
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4958738/
https://ncbi.nlm.nih.gov/pubmed/27499926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cjp2.48
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker