Results 31 to 40 of about 11,447 (146)

Additional file 1: of Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilsonâ s disease: a case report

, 2018
Materials and methods. A detailed description of the sample acquisition, sample preparations, Sanger sequencing, alignment, and bioinformatics analyses (DOCX 30 kb)
Liu, Gang, Ma, Dingyuan, Cheng, Jian, Zhang, Jingjing, Luo, Chunyu, Sun, Yun, Hu, Ping, Wang, Yuguo, Jiang, Tao, Xu, Zhengfeng   +9 more
openaire   +1 more source

Additional file 2: of Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilsonâ s disease: a case report

, 2018
Table S1. Overview of previously reported pathogenic deletions of the ATP7B gene and use of the FoSTeS/MMBIR mechanism to explain their formations (DOCX 149 kb)
Liu, Gang, Ma, Dingyuan, Cheng, Jian, Zhang, Jingjing, Luo, Chunyu, Sun, Yun, Hu, Ping, Wang, Yuguo, Jiang, Tao, Xu, Zhengfeng   +9 more
openaire   +1 more source

Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters

Case Reports in Medicine, 2020
Background. Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. Case Presentation.
Nebiyu Bekele, Frew Ewnetu, Tigest Hailu, Zerubabel Tegegne, Abilo Tadesse   +4 more
doaj   +1 more source

Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up

Frontiers in Physiology, 2017
Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy.
Kai Li, Kai Li, Charlotte Lindauer, Rocco Haase, Heinz Rüdiger, Heinz Reichmann, Ulrike Reuner, Tjalf Ziemssen, Tjalf Ziemssen   +8 more
doaj   +1 more source

Leptospirosis presenting in a woman with fulminant hepatic failure from Wilson's disease: a case report

Journal of Medical Case Reports, 2010
Introduction We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation.
Andreadis Emmanuel A, Agaliotis Gerasimos D, Mousoulis George P   +2 more
doaj   +1 more source

You Only Find What You Are Looking for: Concurrent Alcoholic Liver Cirrhosis and Undiagnosed Wilson’s Disease [PDF]

, 2021
Haya Omeish, Nada Hajjaj, Mohammad Abdulelah, Husam Bader   +3 more
openalex   +1 more source

ПСЕВДОВИЛЬСОН-КОНОВАЛОВ — ВОЗВРАЩЕНИЕ К ПРИМАТУ КЛИНИЧЕСКОГО ДИАГНОЗА В ХХI ВЕКЕ

Архивъ внутренней медицины, 2015
Tremor disease Wilson’s is demands obligatory differential diagnosis with multiple sclerosis. The article presents a clinical case of mistaken diagnosis, “Wilson’s disease” rather than the diagnosis “multiple sclerosis” in young men.
З. А. Гончарова, С. С. Лунева, С. И. Сенин   +2 more
doaj   +1 more source

Human Embryonic Stem Cell-Derived Wilson’s Disease Model for Screening Drug Efficacy

Cells, 2020
Human pluripotent stem cells (hPSCs) including human embryonic stem cells (hESCs) and human-induced pluripotent stem cells (hiPSCs) have been extensively studied as an alternative cellular model for recapitulating phenotypic and pathophysiologic ...
Dongkyu Kim, Su-Bin Kim, Jung Lim Ryu, Heesu Hong, Jin-Hyuk Chang, Tack-Jin Yoo, Xiong Jin, Han-Jin Park, Choongseong Han, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo, Jong-Hoon Kim, Dong-Hun Woo   +13 more
doaj   +1 more source

Plasmapheresis for Fulminant Wilson’s Disease Improves Mental Status and Coagulopathy

Case Reports in Hepatology, 2023
Wilson’s disease is a rare genetic condition that affects copper metabolism, resulting in tissue copper accumulation and resultant organ damage. We report a case of a young woman who presents with Wilson’s disease complicated by hemolysis, impaired ...
Quarshie Glover, William Nicholas Rose
doaj   +1 more source

Wilson's disease - clinical picture, factors influencing disease progression, treatment methods

Quality in Sport
Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic metabolic disorder that leads to excessive accumulation of copper in the body, particularly in the liver and brain.
Monika Korga, Paweł Pawlik, Przemysław Zaroda, Jakub Wawrzkowicz, Patrycja Niewinna, Paweł Dąda, Dominika Mańdziuk , Michał Żuchowski, Klaudia Kołodziej , Wojciech Kołodziej    +9 more
doaj   +1 more source