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...

詳細記述

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書誌詳細
出版年:J Pathol Clin Res
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2016
主題:
Original Articles
オンライン･アクセス: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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