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...

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Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2016
Teme:
Original Articles
Online dostop: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
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