نتایج جستجو برای: wilson disease
تعداد نتایج: 1505835 فیلتر نتایج به سال:
Journal:
:Journal of Clinical and Experimental Hepatology
2016
Journal:
:Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
2014
Journal:
:Orphanet Journal of Rare Diseases
2010
Journal:
:World Chinese Journal of Digestology
2016
Journal:
:Gastroenterology
2012
2016
Boglarka Bansagi
David Lewis-Smith
Endre Pal
Jennifer Duff
Helen Griffin
Angela Pyle
Juliane S. Müller
Gabor Rudas
Zsuzsanna Aranyi
Hanns Lochmüller
Patrick F. Chinnery
Rita Horvath
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید