K Chevalier, N Benyounes, MA Obadia… - Journal of Inherited …, 2021 - Wiley Online Library
Wilson disease (WD) is a rare genetic condition that results from a build‐up of copper in the body. It requires life‐long treatment and is mainly characterized by hepatic and neurological …
XZ Yuan, RM Yang, XP Wang - Current Neuropharmacology, 2021 - ingentaconnect.com
Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is characterized by the pathological accumulation of copper in the liver and brain. Common …
W Deng, J Zhang, R Zhao, Y Qian, Y Han… - Radiology …, 2022 - pubs.rsna.org
T1 Mapping Values May Be Associated with Early Myocardial Involvement in Young Patients with Wilson Disease | Radiology: Cardiothoracic Imaging RSNA "skipMainNavigation" …
AK Bajpai, Q Gu, BO Orgil, F Xu… - Frontiers in …, 2023 - frontiersin.org
Background Copper (Cu) is essential for the functioning of various enzymes involved in important cellular and physiological processes. Although critical for normal cardiac function …
C Wang, H Gao, J Sun, L Wang, W Li, X Zu… - European journal of …, 2022 - journals.lww.com
Methods We retrospectively enrolled adult patients who were diagnosed with WD between January 2011 and December 2020. Demographic and clinical data were collected and …
W Deng, J Zhang, Z Jia, Z Pan, Z Wang, H Xu… - Insights into …, 2024 - Springer
Objectives To explore the characteristics of myocardial involvement in Wilson Disease (WD) patients by cardiac magnetic resonance (CMR). Methods We prospectively included WD …
M Rossi, N Wainsztein, M Merello - … Disorders Clinical Practice, 2021 - Wiley Online Library
Background Several conditions represented mainly by movement disorders are associated with cardiac disease, which can be overlooked in clinical practice in the context of a …
J Salatzki, I Mohr, J Heins, MH Cerci, A Ochs… - Journal of …, 2021 - Elsevier
Background Systemic effects of altered serum copper processing in Wilson Disease (WD) might induce myocardial copper deposition and consequently myocardial dysfunction and …
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole- genome sequencing (WGS) revealed the rare co-occurrence of two novel compound …