Results 51 to 60 of about 13,679,770 (330)
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 pseudosclerotic form (“wing beating tremor”) of Wilson’s disease [PDF]
Romanian Journal of Neurology, 2015 Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “
Alina Poalelungi +3 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
Liver Transplantation for Neuropsychiatric Wilson Disease [PDF]
, 1998 Although neuropsychiatric manifestations are prominent in some patients with Wilson disease, there is little published information regarding the efficacy of liver transplantation for these patients.
Norbert Witt +3 more
core +1 more source
International Journal of Molecular SciencesWilson disease is a genetic disorder of the liver characterized by excess accumulation of copper, which is found ubiquitously on earth and normally enters the human body in small amounts via the food chain. Many interesting disease details were published
R. Teschke, Axel Eickhoff
semanticscholar +1 more source
Neurologic impairment in Wilson disease.
Annals of Translational Medicine, 2019 Neurologic symptoms in Wilson disease (WD) appear at an older age compared to hepatic symptoms and manifest in patients with misdiagnosed liver disease, in patients when the hepatic stage is clinically silent, in the case of non-compliance with anti ...
P. Dušek, T. Litwin, A. Członkowska
semanticscholar +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
Therapeutic strategies in Wilson disease: pathophysiology and mode of action
Annals of Translational Medicine, 2020 Wilson disease is a copper overload disease treatable with the chelators D-penicillamine and trientine to enhance urinary excretion or with zinc which predominantly inhibits absorption.
W. Stremmel, R. Weiskirchen
semanticscholar +1 more source
Elastography of the Liver in Wilson’s Disease
, 2023 Staging of liver fibrosis is of special significance in Wilson’s disease as it determines the patient’s prognosis and treatment. Histopathological examination is a standard method for fibrosis assessment; however, non-invasive methods like ...
Adam Przybyłkowski +2 more
core +1 more source
Molecular Oncology, EarlyView.In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera +11 more
wiley +1 more source