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

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...

Full description

Bibliographic Details
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: Online
Language:English
Published: John Wiley and Sons Inc. 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958738/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958738/

Similar Items