Results 81 to 90 of about 2,712 (224)

Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center

Pediatrics and Neonatology, 2010
Wilson's disease (WD) is an autosomal recessive defect of cellular copper export. Early diagnosis in children is difficult due to its obscure clinical presentations.
Li-Ching Wang, Jiaan-Der Wang, Chi-Ren Tsai, Shao-Bin Cheng, Chieh-Chung Lin   +4 more
doaj   +1 more source

Impacts of tomato extract on the mice fibrosarcoma cells [PDF]

, 2013
Introduction: The anticancer effect of tomato lycopene has been approved in some cancers. This study was aimed to determine the prohibitive and therapeutic effects of tomato extract on the growth of fibrosarcoma in mice.
Kiani, Mahboubeh., shirzad, Hedayatollah., Shirzad, Maryam.   +2 more
core  

Virtual clinical trials identify effective combination therapies in ovarian cancer [PDF]

, 2019
A major issue in oncology is the high failure rate of translating preclinical results in successful clinical trials. Using a virtual clinical trial simulations approach, we present a mathematical framework to estimate the added value of combinatorial ...
Färkkilä, Anniina, Hautaniemi, Sampsa, Hietanen, Sakari, Hynninen, Johanna, Kozlowska, Emilia, Vallius, Tuulia   +5 more
core   +1 more source

Comprehensive Pharmacological Management of Wilson’s Disease: Mechanisms, Clinical Strategies, and Emerging Therapeutic Innovations

Sci
Wilson’s disease is a rare autosomal recessive disorder of copper metabolism characterized by excessive copper accumulation in the liver, brain, and other tissues.
Ralf Weiskirchen
doaj   +1 more source

Neurologic Wilson's disease [PDF]

, 2010
Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease.
Lorincz, Matthew T.
core   +1 more source

Copper in cancer: friend or foe? Metabolism, dysregulation, and therapeutic opportunities

Cancer Communications, Volume 45, Issue 5, Page 577-607, May 2025.
Abstract Copper, one of the essential nutrients for the human body, acts as an electron relay in multiple pathways due to its redox properties. Both deficiencies and excesses of copper lead to cellular fragility. Therefore, it can manifest pro‐ and anti‐cancer properties in tumors. Therefore, it is crucial to clarify the copper activity within the cell.
Dan Shan, Jinling Song, Yuqing Ren, Yuyuan Zhang, Yuhao Ba, Peng Luo, Quan Cheng, Hui Xu, Siyuan Weng, Anning Zuo, Shutong Liu, Xinwei Han, Jinhai Deng, Zaoqu Liu   +13 more
wiley   +1 more source

Wilson Disease: Why Early Diagnosis Matters and How to Improve Screening

Quality in Sport
Wilson disease is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene, leading to copper accumulation in the liver, brain, and other organs.
Agnieszka Starzyk, Piotr Charzewski
doaj   +1 more source

Advance in the pathogenesis and treatment of Wilson disease

Translational Neurodegeneration, 2012
Wilson disease is an autosomal recessive disorder of copper metabolism. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring.
Dong Qin-Yun, Wu Zhi-Ying
doaj   +1 more source

Nuclear poly(ADP-ribose) activity is a therapeutic target in amyotrophic lateral sclerosis [PDF]

, 2018
Amyotrophic lateral sclerosis (ALS) is a devastating and fatal motor neuron disease. Diagnosis typically occurs in the fifth decade of life and the disease progresses rapidly leading to death within ~ 2–5 years of symptomatic onset. There is no cure, and
A Chiarugi, A Chiarugi, A Sonnenblick, AA Fatokun, AC Elden, AE Renton, AK Leung, B Luscher, B Nefussy, BA Gibson, C Benkler, C Cosi, C Culmsee, C Hewitt, C Vance, CR Calabrese, D Petrov, DR Rosen, DR Thal, E Bentmann, E Kiskinis, E Turunc Bayrakdar, EM Park, EV Hobson, F Geser, F Moroni, G Kim, GE Abdelkarim, GM Shah, Group AS, Group AS, H Braak, H Braak, H Farmer, H Kawamitsu, H Sawada, H Yokoyama, HE Bryant, HJ Kim, HT Chung, IG McKeith, IR Mackenzie, J Brettschneider, J Mojsilovic-Petrovic, J Mojsilovic-Petrovic, J Rosenfeld, J Sreedharan, J Zhang, JC Morris, JD Rothstein, JD Rothstein, JD Rothstein, JP Taylor, JS Bae, K Takahashi, K Uryu, K Zhang, KW Caldecott, L Lehtio, L Liu-Yesucevitz, L Mariotti, L McGurk, L Van Den Bosch, LA Becker, LP Rowland, M Altmeyer, M Citarelli, M DeJesus-Hernandez, M Endres, M Endres, M Hasegawa, M Isabelle, M Naumann, M Neumann, M Neumann, M Neumann, MA Farg, MJ Finelli, MO Hottiger, NA Berger, NL Kedersha, O Hardiman, O Spreux-Varoquaux, OA Andreassen, P Anderson, PJ Shaw, PL Oliver, R Gupte, R Krishnakumar, RH Tan, S Hanai, S Martire, S Martire, S Saxena, SA Andrabi, SB Gibson, SC Ling, SH Kaufmann, SH Kim, SH Kim, SH Koh, SL Rulten, SS Mirra, T Haikarainen, TJ Kwiatkowski Jr, TM Kauppinen, V Schreiber, VL Dawson, X Luo, Y Wang, YH Chung, YR Li, ZY Abd Elmageed   +112 more
core   +2 more sources

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
The presented evidence and consensus based recommendations provide a framework for the diagnosis and management of patients with hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in SLC30A10 and SLC39A14. ABSTRACT Hypermanganesaemia with Dystonia 1 and 2 (HMNDYT1 and 2) are inherited, autosomal recessive disorders caused by ...
Sherry Fang, Peter T. Clayton, Divyani Garg, Sangeetha Yoganathan, Maha S. Zaki, Elin A. Helgadottir, Vala K. Palmadottir, Maude Landry, Sidney M. Gospe Jr, Kshitij Mankad, Vincenzo Bonifati, Suvasini Sharma, Karin Tuschl   +12 more
wiley   +1 more source