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SM ISO690:2012 TOFAN-SCUTARU, Liudmila, DUMBRAVA, Vlada-Tatiana, RĂILEANU, Ludmila, ŢURCANU, Adela, MOSCALU, Iurie, OUŞ-CEBOTAR, Mariana. Boala Wilson, stare heterozigotă. Caz clinic. In: Sănătate Publică, Economie şi Management în Medicină , 2014, nr. 5(56), pp. 92-97. ISSN 1729-8687. |
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Sănătate Publică, Economie şi Management în Medicină | ||||||
Numărul 5(56) / 2014 / ISSN 1729-8687 /ISSNe 2587-3873 | ||||||
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Pag. 92-97 | ||||||
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Wilson’s disease is an autosomal-recessive disorder, caused by mutations in ATP7B gene encoding a copper transporter ATPase, as a result leading to reduced biliary excretion of copper and storage of vital organs.Disease occurs in homozygous (about 1% of the population) and among heterozygous rarely meets. This article presents a relevant clinical case of Wilson’s disease, heterozygous state. It revealed the presence of severe liver disease with cirrhosis development and neurological damage with clinical and paraclinical improvement of patient status on the background treatment. The patient requires continued therapy, supervision and monitoring dynamic |
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Cuvinte-cheie hepatolenticular degeneration, copper metabolism, Wilson’s disease |
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