Results 51 to 60 of about 2,712 (224)

Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency

Frontiers in Pediatrics, 2021
Background: Wilson disease (WD) and glucose transporter type 1 (GLUT1) deficiency syndrome are two syndromes with different modes of inheritance but share certain similarities on neurological presentation. To date we have not found previous reports of an
Jenna Diaz, Ashley G. Fonseca, Richard Arboleda, Alejandro Frade, Maria Pilar Gennaro, Parul Jayakar, Paula Schleifer, Erick Hernandez   +7 more
doaj   +1 more source

Methanobactin and the Link Between Copper and Bacterial Methane Oxidation [PDF]

, 2016
Methanobactins (mbs) are low-molecular-mass (
Bowman JP, Brewer GJ, Chistoserdova L, Colby J, Dalton H, Dworkin M, Elango N, Fentona R, Folkman J, Fox BG, Fox BG, Fox BG, Fru EC, Green J, Hondrop ER, Hooper AB, Iravani S, Jacinthe PA, Jollie DR, Khmelenina VN, Leadbetter ER, Leak DJ, Lee SK, Liu KE, Martell AE, Pan Q, Pesch ML, Prior SD, Rehmani FS, Rosenzweig AC, Rouviere PE, Schmidt EW, Scott D, Shchukin VN, Suzuki KT, Söhngen NL, Turrens JF, Woodland MP   +37 more
core   +1 more source

The reduction of IL-6 gene expression, pAKT, pERK1/2, pSTAT3 signaling pathways and invasion activity by gallic acid in prostate cancer PC3 cells [PDF]

, 2016
Prostate cancer (PC) is one of the most common cancers among men. Progression of prostate cancer is associated with an increase in cellular level of interleukin-6 (IL-6). Gallic acid (GA) is a polyhydroxy phenolic compound which can inhibit the growth of
Ghatreh-Samani, Keihan., Heidarian, Esfandiar., Keloushadi, Mahnaz., Valipour, Parisa.   +3 more
core   +1 more source

Evaluación de la eficacia y seguridad del tratamiento con tetratiomolibdato de amonio en la enfermedad de Wilson con afectación neurológica [PDF]

, 2012
El tractament actual de la malaltia de Wilson amb afectació neurològica és controvertit. Els fàrmacs actuals s'associen a risc de deteriorament neurològic (50% amb penicilamina i 26% amb trientine).
Miquel Rodríguez, Francesc, Palasí Franco, Antoni, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina, Álvarez Sabín, José   +4 more
core  

Considerations for drug trials in hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant, Matthias Schmitt, Anna B. Reid, Clifford J. Garratt, William G. Newman, Aneil Malhotra, Rhys Beynon, Masliza Mahmod, Betty Raman, Robert M. Cooper, Dana Dawson, Thomas Green, Sanjay K. Prasad, Anvesha Singh, Susanna Dodd, Hugh Watkins, Stefan Neubauer, Christopher A. Miller   +17 more
wiley   +1 more source

Modality of treatment and potential outcome of Wilson disease in Taiwan: A population-based longitudinal study

Journal of the Formosan Medical Association, 2018
Background/Purpose: This study aimed to investigate the epidemiology, the preference of medication, and the potential outcome of Wilson disease in Taiwan.
Chi-San Tai, Jia-Feng Wu, Huey-Ling Chen, Hong-Yuan Hsu, Mei-Hwei Chang, Yen-Hsuan Ni   +5 more
doaj   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Relative Exchangeable and Exchangeable Copper: Emerging New Biomarkers for Diagnosis and Therapy Monitoring in Wilson's Disease

Liver International, Volume 46, Issue 6, June 2026.
ABSTRACT Background and Aims Wilson's disease (WD) is a genetic disorder of copper metabolism in which early diagnosis remains challenging, particularly in acute liver failure (ALF). Relative exchangeable copper (REC) and exchangeable copper (CuEXC) are emerging biomarkers for diagnosis and monitoring, but data from larger cohorts are limited.
Sebastian Köhrer, Antoan Rusev, Holger Zimmer, Silke Wolf, Jessica Langel, Andrea Langel, Thomas Longerich, Patrick Michl, Moritz Niesert, Alexander Fichtner, Isabelle Mohr   +10 more
wiley   +1 more source

Ayurvedic approach for management of Wilson's disease: A case report

Journal of Ayurveda and Integrative Medicine, 2020
Wilson's disease betides due to mutation in ATP-7B that leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney or skeletal system. The symptoms are jaundice, edema in legs, ascites,
Tarun Kumar, Anup Thakar
doaj   +1 more source

Hepatic Lenticular Degeneration With Renal Tumors: A Case Series

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT This article presents a series of cases involving hepatic lenticular degeneration (Wilson's disease) complicated by renal tumors. It details the clinical manifestations, diagnostic procedures, treatment strategies, pathological features and outcomes of these patients. We found that this type of patient has an early‐onset disease, complex tumor
Haibing Xiao, Mintian Fei, Haoqiang Shi, Xinfeng Ma, Qili Xu, Yu Gao, Cheng Yang, Yu Yin, Jun Zhou, Chaozhao Liang   +9 more
wiley   +1 more source