Results 1 to 10 of about 1,630 (179)

Removal of Toxic Metabolites-Chelation: Manganese Disorders. [PDF]

J Inherit Metab Dis
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Vogt H, Kostakis GE, Purchase R, Spencer J, Tuschl K.   +4 more
europepmc   +2 more sources

Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patients [PDF]

Orphanet Journal of Rare Diseases
Objectives Wilson disease (WD) is a rare genetic disease affecting copper metabolism and the biliary tract’s copper excretion. Lifelong medication is necessary to prevent liver failure, neurological complications, and death. Although D-penicillamine (DPA)
Eun Joo Lee, Min Hyung Woo, Jin Soo Moon, Jae Sung Ko   +3 more
doaj   +2 more sources

Comparative Analysis of Clinical Outcomes and Safety Profile of Trientine and d-Penicillamine in the Management of Wilson’s Disease: A Systematic Review and Meta-Analysis

Rare
Introduction: Wilson disease (WD) is a rare metabolic disorder of copper metabolism, requiring life-long therapy, usually with D-penicillamine or trientine. This review compares their clinical effectiveness and safety.
Hafiz Muhammad Ehsan Arshad, Musab Maqsood, Muhammad Zain Raza   +2 more
exaly   +3 more sources

Prospective Study to Assess Long‐Term Outcomes of Chelator‐Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease [PDF]

JGH Open
Background and Aims Wilson disease is an inherited disorder of copper metabolism affecting mainly the liver and brain. Trientine dihydrochloride (TETA‐2HCl) is approved for the treatment of Wilson disease in patients (≥ 5 years) intolerant to D ...
Isabelle Mohr, Carlot Kruse, Verena Aliane, Karl Heinz Weiss   +3 more
doaj   +2 more sources

Wilson Disease Hiding in Plain Sight: A Case Report of Psychosis and Catatonia Revealing Underlying Liver Dysfunction [PDF]

Reports
Background and Clinical Significance: Wilson disease is a rare autosomal recessive disorder of copper metabolism that can initially present with psychiatric symptoms, leading to delays in accurate diagnosis and treatment.
Adela Georgiana Buciuc, Vanessa Padilla, Dante Durand, Espinel Zelde   +3 more
doaj   +2 more sources

Adherence, satisfaction, and quality of life in Wilson disease patients after switching to trientine tetrahydrochloride: observational data from a dual cohort study [PDF]

Frontiers in Pharmacology
BackgroundWilson disease (WD) is a rare genetic disorder requiring lifelong treatment. Adherence to therapy is thus of utmost importance. We aimed to assess the change in treatment adherence and satisfaction in adult patients with WD after transitioning ...
Valentina Medici, Nora Cazzagon, Pier M. Battezzati, Andrea Crosignani, Alberto Civolani, Emanuela Bonaiuto, Renata D’Incà, Emanuela Vargiu, Fabio Tedone, Stefania Lopatriello, Massimo Zuin   +10 more
doaj   +2 more sources

Research Progress of Cuproptosis in Orthopaedics: Opportunities and Challenges. [PDF]

J Cell Mol Med
ABSTRACT Cuproptosis, a recently identified and copper‐dependent form of regulated cell death, has emerged as a potential therapeutic target for a variety of diseases. This review synthesizes current evidence from PubMed to elucidate the mechanisms of cuproptosis and its implications in common orthopaedic disorders, including arthritis, bone tumours ...
Wang C, An P.
europepmc   +2 more sources

The Economic Burden, Epidemiological Insights, and Treatment Patterns of Wilson's Disease: A Real-World Study in Italy [PDF]

Drugs - Real World Outcomes
Background Wilson's disease (WD) is an autosomal recessive disorder characterized by abnormal copper accumulation, leading to multi-organ damage. The economic impact of WD in Italy has not been comprehensively studied.
Paolo Sciattella, Matteo Scortichini, Nora Cazzagon, Georgios Loudianos, Massimo Zuin, Pier Maria Battezzati, Giuseppe Maggiore, Antonio Grieco, Eugenio Baglione, Marco Senzolo, Silvia Mazza, Claudia Della Corte, Annalisa Tortora, Fabiola Di Dato, Margherita Matarazzo, Raffaele Iorio   +15 more
doaj   +2 more sources

Maternal and Fetal Outcomes of Pregnancies in Wilson’s Disease: A Single-Centre Real-Life Experience [PDF]

The Turkish Journal of Gastroenterology
Background/Aims: This study aims to investigate the fetal outcomes and pregnancy course in patients with Wilson’s disease (WD). Materials and Methods: A total of 54 female patients with a diagnosis of WD and a history of pregnancy between 1985 and ...
Kadir Demir, Aslı Çifcibaşı Örmeci, Bilger Çavuş, Zülal İstemihan, Sezen Genç, Alp Atasoy, Filiz Akyüz, Fatih Beşışık, Sabahattin Kaymakoğlu   +8 more
doaj   +2 more sources

Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective [PDF]

GE: Portuguese Journal of Gastroenterology
Wilson disease (WD) is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene resulting in toxic copper accumulation in several organs.
Filipe Calinas, Hélder Cardoso, Sofia Carvalhana, José Ferreira, Cristina Gonçalves, Marina Magalhães, Helena Pessegueiro Miranda, José Presa, Carla Rolanda, Arsénio Santos, Rui M. Santos   +10 more
doaj   +2 more sources