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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958738/
https://www.ncbi.nlm.nih.gov/pubmed/27499926
http://dx.doi.org/10.1002/cjp2.48

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