Results 21 to 30 of about 187,102 (250)
Wilson disease – a case report [PDF]
Romanian Journal of Neurology, 2018 Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport.
Simina Cozma +2 more
doaj +1 more source
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
European Journal of Case Reports in Internal Medicine, 2022 We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene.
Marcus Villander Barros de Oliveira Sá +5 more
doaj +1 more source
Bioengineering, 2019 Wilson Disease is a rare autosomal recessive liver disorder in humans. Although its clinical presentation and age of onset are highly variable, hallmarks include signs of liver disease, neurological features and so-called Kayser-Fleischer rings in the ...
Hedwig S. Kruitwagen +2 more
doaj +1 more source
Medicine, 1992 Wilson disease is an inherited disorder of copper metabolism. Progress has been made in establishing the location of the gene on the long arm of chromosome 13, and in finding nearby probes that can be used to identify affected sibs of newly diagnosed patients. However, the gene has not been cloned, and the molecular nature of the defect remains unknown.
G J, Brewer, V, Yuzbasiyan-Gurkan
openaire +2 more sources
Copper – a novel stimulator of autophagy
Cell Stress, 2020 Toxic copper accumulation causes Wilson disease, but trace amounts of copper are required for cellular and organismal survival. In a recent paper Tsang et al.
Hans Zischka, Guido Kroemer
doaj +1 more source
Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease
Annals of Internal Medicine: Clinical Cases, 2023 D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
doaj +1 more source
Quality of Life in Children with Wilson Disease: A Single Center Study [PDF]
Pediatric Sciences JournalBackground: Wilson disease (WD) is associated with compromised health-related quality of life (HRQoL) in both adults and children, even in the early stages of the liver disease.
Walaa ElNaggar +3 more
doaj +1 more source
The first experience of non-interferon therapy of HCV infection in patients with Wilson-Konovalov’s disease [PDF]
Терапевтический архив, 2018 In the article we present three clinical observations demonstrating that HCV infection in patients with remission of Wilson disease causes an recrudescence of the disease, in one of the observations - decompensation of liver cirrhosis.
T P Rozina +5 more
doaj +1 more source
Wilson – Konovalov Disease: Clinical Cases with Different Manifestations and Outcomes
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2023 Аim: to describe clinical cases of Wilson – Konovalov disease in pediatric patients.Key points. The first clinical case demonstrates the manifestation of Wilson – Konovalov disease with unexplained mild elevation of aminotransferases at the age of 6 ...
O. V. Samodova +2 more
doaj +1 more source
FEBS Letters, EarlyView.Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson +7 more
wiley +1 more source