Results 31 to 40 of about 11,342 (257)

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis

JHEP Reports
Background & Aims: Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in various organs, primarily the liver and brain. Standard assessment of copper metabolism includes total serum copper, serum ceruloplasmin,
Nouzha Djebrani-Oussedik, Clément Desjardins, Mickaël Alexandre Obadia, Djamila Rahli, Corinne Collet, France Woimant, Joël Poupon, Dominique Debray, Aurélia Poujois   +8 more
doaj   +1 more source

Construction of diagnostic prediction model for Wilson's disease

Frontiers in Surgery, 2023
BackgroundWilson's disease, also known as hepatolenticular degeneration, is a rare human autosomal recessive inherited disorder of copper metabolism. The clinical manifestations are diverse, and the diagnosis and treatment are often delayed.
Yao Wang, Yao Wang, Yulian Li, Linting Xun, Zhengji Song   +4 more
doaj   +1 more source

Demographic information of children with Wilson’s disease in Pakistan.

, 2022
Demographic information of children with Wilson’s disease in Pakistan.
Kiran Afshan (12969357), Tayyaba Shan (12969354), Bushra Gul (12969345), Raeesa Tehreem (12969351), Sabika Firasat (12969348)   +4 more
core   +1 more source

Insights into the management of Wilson’s disease

, 2017
Wilson’s disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B , results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of ...
Gideon M. Hirschfield, Mohmadshakil Kathawala   +1 more
core   +2 more sources

Neuropsychiatric disorders in Wilson’s disease: literature review

Neurologijos seminarai, 2023
Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs.
S. Galnaitytė, A. Musneckis
doaj   +3 more sources

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

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

Successful Photorefractive Keratectomy in a Case of Wilson’s Disease

, 2021
Purpose. To report a female with a history of Wilson’s disease who underwent a successful photorefractive keratectomy (PRK) for myopic correction. Case Presentation.
Hamid-Reza Heidarzadeh, Saeed Shokoohi-Rad   +1 more
core   +1 more source

Correlation between neurological impairment and liver status in Wilson’s disease [PDF]

, 2021
Background: The most widely recognized aspect of the neuro-hepatic relation is hepatic encephalopathy, in which neurotransmission in the brain is altered.
Cumpătă, Veronica, Țurcanu, Adela, Tcaciuc, Eugen, Sacară, Victoria, Lisnic, Vitalie   +4 more
core  

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

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, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source